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PRESENTATION ON BLOOD

DISORDERS IN CHILDREN

Presented by:
Ligy mary thomas
Msc nursing(3rd semester)

HAEMATOPOIESIS
Haematopoiesis is the formation of blood cellular
components. All cellular blood components are derived
from haematopoietic stem cells.In a healthy adult person,
approximately 10111012 new blood cells are produced
daily in order to maintain steady state levels in the
peripheral circulation.

ANEMIA
Anemia is generally defined as a reduction in the O2
carrying capacity leading to tissue hypoxia.
Ideally it is the functional anemia at the tissue level
which is more important, as is very well demonstrated in
case of congenital cyanotic heart disease.
However, there is no good marker of functional anemia
and hence one has to rely on values of red cell mass or
haemoglobin levels to define anemia.

DEFINITION

Anemia is defined as reduction in the blood hemoglobin


concentration 2 standard deviations below the mean for
the normal population with respect to age, gender is
known as anemia.

APPROACH TO A CHILD WITH ANEMIA


A. Is the patient anemic?
B. How severely is he/she affected?
C. What is the cause and type of anemia?
D. What treatment should he/she be offered?

TYPES (GENERAL)
Anaemia may be mild, moderate, or severe in nature.
Mild anaemia: hemoglobin 9.5-11 g/dl, is often
asymptomatic and frequently escapes detection.
Moderate anaemia: hemoglobin 8-9.5 g/dl, may present
with other symptoms and warrants timely management
to prevent long-term complications.
Severe anaemia: hemoglobin < 8 g/dl, will warrant
investigation and prompt management.

MECHANISM

Anaemia conceptually reflects an imbalance between


RBC production and destruction and may be due to one
of three mechanisms.
Excess RBC loss, as occurs with hemorrhage, may
create anaemia as RBCs are depleted in addition to loss
of intravascular volume.
Excess or premature RBC destruction, such as from
hemolysis, may create anaemia as RBCs are lost from
circulation prior to their normal turnover.
A third mechanism, insufficient RBC production, may
create anaemia either from lack of stimulation of
production or lack of RBC precursor availability

CAUSES OF PALLOR IN CHILDREN, BASED ON


ETIOLOGIC MECHANISM

Anemia
Decreased Tendency of the Skin to Pigment
Physiologic (fair-skinned individuals)
Limited sun exposure
Alteration of the Consistency of the SubcutaneousTissue
Edematous states Increased intravascular hydrostatic
pressure(e.g., congestive heart failure) Decreased
intravascular oncotic pressure(hypoproteinemia)
Increased vascular permeability (e.g., vasculitis)
Hypothyroidism

CONTD
Decreased Perfusion of the Cutaneous/Mucosal Vasculature
A.Hypotension

Cardiogenic

shock (pump failure or rhythm disturbance)


Hypovolemia (blood loss, dehydration)
Anaphylaxis
Sepsis
Acute adrenal insufficiency
Vasovagal syncope

B. Vasoconstriction
Increased

sympathetic activity (hypoglycemia, pheochromocytoma)


Neurologic complications (head trauma, seizures,migraine)

HOW SEVERE IS THE ANEMIA ?


It is important to quickly assess the patients clinical
condition.
If the patient is severely pale and sick looking, breathless,
has tachycardia, raised JVP and tender hepatomegaly, it is
suggestive of congestive cardiac failure (CCF).
Such a patient needs immediate attention and prompt
treatment including diuretics,restricted fluids, oxygen
support and packed cell transfusion.
One should not waste time in lengthy diagnostic tests and
do as minimum tests as required. Even removing too much
blood for various tests can be hazardous as it can
precipitate cardiac failure.

CONTD
The clinical condition of the patient depends not only on
the severity of anemia but also on the rate of drop of Hb.
A child with 5 g% Hb, when it develops slowly like in
iron deficiency, may be comfortable and come by
walking whereas, if it deveops acutely due to G6PD
deficiency, the child may be brought in a collapsed state.

TYPE AND CAUSE OF ANEMIA


Etiological classification, based on the disturbance of
erythropoiesis.
Morphological classification based on findings of red
cell size and indices.
Both these are not mutually exclusive and are often used
together to come to a conclusion as to the cause of
anemia.

ETIOLOGICAL CLASSIFICATION OF ANEMIA


A. DECREASED EFFECTIVE PRODUCTION
Nutritional deficiency- e.g. deficiency of iron, folate, vitamin
B12, protien, zinc, copper
Bone marrow failure- e.g. aplastic anemia, constitutional
hypoplastic anemia, pure red cell aplasia.
Bone marrow infiltration- e.g. malignancies like leukemia,
lymphoma, osteopetrosis, myelofibrosis.
Impaired erythropoietin production- e.g. renal disease,
prematurity, hypothyroidism, hypopituitarism, chronic
inflammation, protein malnutrition.
Ineffective erythropoiesis- e.g. Thalassemia, sideroblastic
anemia,lead poisoning, Primary dyserythropoietic anemia,
Erythropoietic protoporphyria, megaloblastic anemia.

CONTD
B. INCREASED DESTRUCTION (HEMOLYTIC
ANEMIA)
Extracorpuscular causes
1. Mechanical- e.g. prosthetic valve, DIC, HUS
2. Immune- e.g. acquired immune hemolytic anemia,
ABO or Rh sensitization, mismatch transfusion.
3. Infection- e.g. malaria.
4. Sequestration- e.g. hypersplenism.
5. Complement induced, e.g. paroxysmal nocturnal
hemoglobinuria

CONTD..
Intracorpuscular causes (usually congenital)
1. Membrane defectspherocytosis, stomatocytosis,
elliptocytosis.
2. Enzyme defectG6PD deficiency, PK deficiency.
3. Hemoglobin defectSickle cell anemia, thalassemia, HbC,
HbD, HbE disease.
Blood loss (Hemorrhage): Acute or chronic, internal or external
1. Internal AcuteMassive cephalhematoma, hemothorax
ChronicPulmonary hemosiderosis.
2. External Acutemassive GI hemorrhage, trauma, hemoptysis
Chronic-peptic ulcer, rectal polyp, hookworm infestation

MORPHOLOGICAL CLASSIFICATION OF
ANEMIA
A.Microcytic, hypochromic anemia MCV < 70 , MCH <
28 pg.
Iron deficiency anemia.
Anemia of chronic infection or inflammation.
Thalassemia syndromes.
Sideroblastic anemia.
Lead poisoning.
Severe protein deficiency.

CONTD
B. Macrocytic anemia
Megaloblastic anemia
1. Folate deficiency
2. Vitamin B12 deficiency
3. DNA metabolism defects like orotic aciduria
Non-megaloblastic anemia
1. Normal newborn.
2. Reticulocytosis.
3. Aplastic anemia.
4. Liver disorders.
5. Hypothyroidism.
6. Alcoholism.
7. Downs syndrome.

APPROACH TO ESTABLISH A
DIAGNOSIS
Approach to Establishing Diagnosis Approach to an
anemic patient includes:
a. Detailed history
b. Thorough physical examination
c. Screening laboratory tests
d. Confirmatory laboratory tests.

CONTD
A. AGE OF ONSET:
Nutritional anemia is not seen at birth.
The commonest causes of anemia in a newborn include hemolysis and
hemorrhage.
Hemolysis ABO, Rh incompatibility.
G6PD deficiency or spherocytosis can present at birth.
Hemolysis is usually associated with icterus besides anemia.
Hemorrhage Huge cephalhematoma, pulmonary hemorrhage,
Intraventricular hemorrhage
Umbilical bleeding, fetoplacental or fetomaternal hemorrhage, GI
hemorrhage like in vitamin K deficiency, etc.

CONTD
At 4 months of age erythroblastopenia of infancy can
occur.
Rarely nutritional anemia can start very early, especially
in preterms.
Between 6 months to 2 years nutritional anemia and
hemoglobinopathies can present as anemia.
Fanconis anemia usually presents around 4 to 6 years of
age.

CONTD
B. Sex: X-linked diseases will be seen in male
Includes G6PD deficiency and PK deficiency.
Only males are affected.
Hence, there will be similar history in male siblings, maternal male
cousins, maternal uncles and maternal grandfather.
In adolescent age, anemia is more common in females due to
nutritional deficiency as a result of menstrual loss of iron
C. Community:
G6PD deficiency is more commonly seen in Parsis, Bhanushalis and
Sindhis.
Beta-thalassemia is more common in Kutchis, Lohanas, Punjabis,
Sindhis, Gujarati.
Sickle cell disease is more common in tribals and hilly areas of Nagpur

CONTD
D. Inheritance:
All hemoglobinopathies and thalassemia syndromes are inherited in autosomal
recessive manner.
Spherocytosis is inherited as autosomal dominant condition.
E. Diet:
Exclusive breastfeeding for 6 months, Introduction weaning food thereafter,
continuation of breast milk till 18 months, Avoidance of animal milk in first year and
balanced diet with occasional non- vegetarian food consumption makes nutritional
anemia unlikely diagnosis.
Iron deficiency develops where there is poor breastfeeding and improper time and
quality of weaning food, both of which are exaggerated by bottle-feeding.
Pica is both an effect and a cause of iron deficiency besides being seen in lead
poisoning.
Eating clay or mud (geophagia), ice (phagophagia), starch (amylophagia), paper, cloth,
raw cereals, paint flakes, etc. is commonly seen in iron deficiency.
Clay or mud can bind whatever little iron is present in food which further precipitates
iron deficiency. Megaloblastic anemia due to folate deficiency is common in those
villagers who consume a lot of milk.

CONTD
DRUGS:
Drugs can induce anemia by many ways.
APLASTIC ANEMIA :
chloramphenicol, sulpha drugs or analgesics. penicillin, alpha
methyldopa or stibophen can lead to immune haemolytic
anemia.
In a patient with G6PD deficiency certain drugs like aspirin,
sulpha drugs, primaquine etc can precipitate hemolysis.
Iron deficiency anemia by chronic GI bleeding following
NSAID abuse;
Megaloblastic anemia as seen with sulpha drugs, phenytoin or
folate antagonists.

CONTD
INFECTIONS AND INFESTATIONS
History suggestive of intrauterine infection should be elicited
when dealing with neonatal anemia especially when it is
associated with hepatosplenomegaly, IUGR, icterus and
thrombocytopenia. Hypoplastic anemia can be precipitated by
hepatitis virus.
G6PD deficiency induced hemolysis can be precipitated by
many infections and drugs used to treat such infections.
Hemolysis could also be induced by malaria.
Marrow suppression can occur following many viral
infections, falciparum malaria, kala-azar, fulminant sepsis or
drugs used in such cases.
Nutritional anemia can be precipitated by worms due to
malabsorption, nutrient deficiency and micro bleeding
especially with hook worm infestations.
Any acute infection can lead to drop in haemoglobin by 1-1.5
g% over next one week.

CONTD
Family history:
History to be elicited in family members includes history
of blood transfusion, unexplained recurrent jaundice, gall
stone removal, splenectomy, suggests some hemolytic
process.
Similarly, history of anemia following drugs in other
members will suggest G6PD deficiency.

PHYSICAL EXAMINATION
A. Ascertain severity:
Pulse, blood pressure and respiratory rate should be
recorded.
Look for puffiness, edema feet, sacral edema,
jugulovenous pulse, heptic tenderness, hepatojugular
reflux and basal crepitations. All these will help to
diagnose congestive cardiac failure as such patients need
urgent treatment.
Hypertension may be seen in anemia due to renal
diseases.

CONTD
B. Facies:
Hemolytic facies will have frontal and parietal bossing,
large head, depressed bridge of nose, malar prominance,
irregular maxillary teeth.
Diamond Blackfan syndrome will have box like face.
Hypothyroidism will have typical cretin facies and may
be missed unless one looks for it carefully.
Look for periorbital puffiness which can suggest edema
due to anemia, CCF or myxedema.

CONTD,
C.Eyes:
Fanconis anemia will have microcornea.
Conjunctival vessels tortuosity is seen in sickle cell
anemia and so is the presence of retinal hemorrhage or
microaneurysms.
Icterus in absence of high colored urine will suggest
hemolytic anemia with indirect hyperbilirubinemia.
Osteopetrosis patients will develop blindness

CONTD
D.Oral cavity:
Look for glossitis, angular stomatitis, bald tongue which
will suggest nutritional anemia.
Look for teeth abnormality for hemolytic anemia.
E. Nail changes:
Platynychia, koilonychia, brittle nails are suggestive of
iron deficiency. Less common in children than in adults,
but when present are pathognomonic of IDA.
Dyskeratotic nails will be seen in dyskeratosis congenita.

CONTD
F. Lymphadenopathy:
Significant lymphadenopathy will suggest tuberculosis, HIV, infectious
mononucleosis,leukemia, lymphoma as the cause of anemia.
Hepatosplenomegaly: Palpable tender liver with positive hepatojugular
reflux is suggestive of CCF. Significant hepatosplenomegaly will suggest
tuberculosis, other viral fever, HIV, leukemia, thalassemia, other
hemoglobinopathies, lymphoma, myelodysplastic syndrome, JCML,
malaria, kala azar, disorders as a cause of anemia.
Isolated splenomegaly will go in favour of enteric fever, malaria, portal
hypertension, lymphoma, CML, tropical splenomegaly or
hypersplenism,immune hemolytic anemia, congenital spherocytosis as a
cause of anemia.
Bleeding manifestation: Presence of bleeding tendencies with petechiae,
purpura will suggest thrombocytopenia, which can be seen in benign
diseases like ITP. or In serious diseases like aplastic anemia, malignancies
or marrow infiltration.

CONTD
G.Skeletal changes:
Patients with Fanconis anemia, TAR syndrome, etc.
have skeletal malformations like absent radius, absent or
bifid thumb, triphalangeal thumb, polydactyly,
syndactyly, short stature,microcephaly.
Look for associated anomalies like mental retardation,
skin hyperpigmentation,hypogonadism, renal anomalies
in such cases.

CONTD
SKIN
Hyperpigmentation, Petechia, purpura thrombocytopenia,
Jaundice Cavernous hemangioma Ulcers on lower
extremities Fanconi aplastic anemia. Autoimmune
hemolytic anemia with hemolytic-uremic syndrome bone
marrow aplasia, bone marrow infiltration. Hemolytic
anemia, hepatitis, and aplastic anemia Microangiopathic
hemolytic anemia S and C hemoglobinopathies,

SKULL : Frontal bossing, prominence of the maxillary


bones. Congenital hemolytic anemias, thalassemia major,
severe iron deficiency

CONTD
EYES :
Microcornea Tortuosity of the conjunctival and retinal vessels
Microaneurysms of retinal vessels S and C hemoglobinopathies
Cataract Vitreous hemorrhages Retinal hemorrhages Edema of
the eyelids Blindness Fanconis aplastic anemia S and C
hemoglobinopathies S and C hemoglobinopaties Glucose-6phosphate dehydrogenase deficiency, galactosemia hemolytic
anemia in newborn period S hemoglobinopathy severe anemia
Infectious mononucleosis, exudative enteropathy with iron
deficiency, renal failure Osteopetrosis
MOUTH :
Glossitis Angular stomatitis inVitamin B12 deficiency and iron
deficiency Iron deficiency

CONTD
CHEST
Unilateral absence of the pectoral muscles Shield chest
Poland syndrome (increased incidence of leukemia
Diamond-Blackfan syndrome
HAND
Triphalangeal thumbs
Hypoplasia of the eminence
Spoon nails.
Red cell aplasia Fanconi aplastic anemia Iron deficiency

CONTD
SPLEEN ENLARGEMENT
Congenital hemolytic anemia, leukemia, lymphoma, acute infection
portal hypertension

Laboratory studies often helpful in the investigation Usual initial


studies Hemoglobin and hematocrit determination. Erythrocyte count
and red cell indices, including MCV and RDW. Reticulocyte count.
Study of stained blood smear. Leukocyte count and differential count.
Platelet count.

Suspected iron deficiency- Free erythrocyte protoporphyrin. Serum


ferritin levels. Stool for occult blood. 99mTc pertechnetate scan for
Meckels diverticulum. Endoscopy (upper and lower bowel).

Suspected vitamin B12 or folic acid deficiency Bone marrow. Serum


vitamin B12 level <100pg / ml. Serum folate level < 3pg/ml. FIGLU
TEST. Vitamin B12 absorption test (radioactive cobalt) (Schilling test).

CONTD
Suspected hemolytic anemia- Evidence of red cell breakdown- a. Blood
smear. b. Serum bilirubin level. c. Urinary urobilinogen excretion. d.
Serum haptoglobin. Evidence of red cell regeneration- a. Reticulocyte
count. b. Blood smear. c. Skeleton radiography.
Evidence of type of hemolytic anemia: Corpuscular
A. Membrane- Blood smear. Osmotic fragility test
Autohemolysis test
B. Enzymes Heinz-body preparation Enzyme assay
C. Hemoglobin- Sickle test. Hemoglobin electrophoresis.
Hemoglobin F determination. Kleihauer-Betke smear.
Evidence of type of hemolytic anemia:
Extracorpuscular Immune- Antiglobulin test Acid serum lysis test
Sucrose lysis test Donath-Landsteiner antibody ANA

APPROACH TO A CHILD WITH


ANEMIA(SCENARIO)

Anemia (Hb less than normal level) - No lymph nodes - No


hepatosplenomegaly - No petechiae or ecchymosis ----- Nutritional iron
deficiency or megaloblastic ----- Pure red cell aplasia ----- Thalassemia
trait ----- Lead poisoning ----- Renal disease

Anemia (Hb less than normal level) - No lymph nodes - No


hepatosplenomegaly - With petechiae and ecchymosis ----- Aplastic
anemia ----- Bleeding disorder ----- Coagulation disorder ----- ITP ----DIC

Anemia (Hb less than normal level) With hepatosplenomegaly ----Thalassemia ----- Liver disorder Infections

Anemia (Hb less than normal level) With petechiae, lymphadenopathy


and hepatosplenomegaly --- Leukamia --- Infections --- DIC

THALASSEMIA

Thalassemia is an inherited blood disorder in which the


body produces an abnormal form of hemoglobin which
results in excessive destruction of red blood cells and
further leads to anemia.

TYPES
Types of thalassemia:
alpha thalassemia
beta thalassemia

ALPHA TAHLASSEMIA

Alpha thalassemia is the result of changes in the genes


for the alpha globin component of hemoglobin

EtiologyMutation in the DNA of cells that produce


hemoglobinInheritance

PATHOPHYSIOLOGY
Alpha thalassemia results when there is disturbance in
production of -globin from any or all four of the - globin
genes.
Genes are responsible for regulating the synthesis and
structure of different globins which are divided into 2
clusters.
The -globin genes are encoded on chromosome 16 and
the , , and -globin genes are encoded on chromosome 11
A normal person carries a linked pair of alpha globin
genes, 2 each from maternal and paternal chromosome.
Therefore, alpha thalassemia occurs when there is a
disturbance in production of -globin from any or all four of
the -globin genes.

CONTD

When functional point mutations, frame shift mutations,


nonsense mutations, and chain termination mutations occur
within or around the coding sequences of the alpha-globin gene
cluster hemoglobin is impaired.
When that occurs, protein synthesis may be inhibited.
Normal production of alpha chains is absent which results in
excess production of gamma- globin chains in the fetus and
newborn or beta- globin chains in children and adults.
The -globin chains are capable of forming soluble tetramers
(beta-4, or HbH)
This form of hemoglobin is still unstable and precipitates
within the cell, forming insoluble inclusions called Heinz bodies
These Heinz bodies damage the red blood cells.
This further results in damage to erythrocyte precursors and
ineffective erythropoiesis in the bone marrow, hypochromia and
microcytosis of circulating red blood cells

CLINICAL PRESENTATION
Shortage of red blood cells- Anemia
Pale skin
Weakness
Fatigue
Enlarged liver and spleen- hepatosplenomegaly
--Heart defects
Abnormalities of the urinary system or genitalia

TREATMENT
Treatment for thalassemia often involves regular blood
transfusions and folate supplements.
Persons who receive significant numbers of blood
transfusions need a treatment called chelation therapy to
remove excess iron from the body.
Bone marrow transplant may help treat the disease in
some patients, especially children.

OPTIONS

Surgical Treatment
Perform splenectomy if transfusion requirements are
increasing.
Surgical or orthodontic correction may be necessary to
correct skeletal deformities of the skull and maxilla
caused by erythroid hyperplasia.

Medications
Folic acid- oral
Folic acid deferoxamine - injection

MEDICATIONS
FOLIC ACID ORAL
BRAND NAME(S): FA-8
USES Folic acid is the man-made form of folate which is a B6- vitamin
naturally found in some foods. It is needed to form healthy cells, especially red
blood cells. Active forms of folic acid are: L-methylfolate and levomefolate
Folic acid supplements are used to treat or prevent low folate levels.

Dosage Taken orally with or without food once daily. However, recommended
dose for deficiency states is 250-1000 mcg (micrograms) per day

Side effects Folic acid usually has very few side effects Possible side effects
include: Serious allergic reaction, including: rash, itching/swelling (especially
of the face/tongue/throat), dizziness, trouble breathing
Folic acid is safe to take during pregnancy when used as directed. It is included
in prenatal vitamin products. Certain spinal cord birth defects may be prevented
by taking adequate amounts of folic acid during pregnancy.

CONTD
DEFEROXAMINE - INJECTION BRAND NAME(S):
Desferal
Deferoxamine is an iron-binding agent that belongs to a
class of drugs known as heavy metal antagonists. It
works by helping the kidneys and gallbladder get rid of
the extra iron.
Mechanism of Action Deferoxamine works in treating
iron toxicity by binding trivalent (ferric) iron (for which
it has a strong affinity), forming ferrioxamine, a stable
complex which is eliminated via the kidneys.

CONTD
Uses
This medication is used along with other treatments
(such as syrup of ipecac) to treat sudden iron poisoning.
It is most effective when given as soon as possible after
the iron was eaten.
This medication can also be used to help get rid of iron
in patients with high iron levels due to many blood
transfusions.
This medication is not recommended for use in children
less than 3 years old This drug may also be used to treat
high levels of aluminum in dialysis patients and people
with aluminum poisoning.

CONTD
Administration & dosage
This medication is administered via IM, IV or SC.
Intramuscular Administration: A dose of 1000 mg should
be administered initially. This may be followed by 500
mg every 4 hours for two doses. Depending upon the
clinical response, subsequent doses of 500 mg may be
administered every 4-12 hours. The total amount
administered should not exceed 6000 mg in 24 hours.

CONTD

Subcutaneous Administration: A daily dose of 1000-2000


mg/day should be administered over 8-24 hours, utilizing
a small portable pump capable of providing continuous
mini- infusion. The duration of infusion must be
individualized. In some patients, as much iron will be
excreted after a short infusion of 8-12 hours as with the
same dose given over 24 hours.

CONTD
Intravenous Administration
This route should be used only for patients in a state of cardiovascular
collapse and then only by slow infusion because deferoxamine can
cause heart problems.
the rate of infusion should not exceed 15 mg/kg/hr for the first 1000
mg administered. Subsequent iv dosing, if needed, must be at a slower
rate, not to exceed 125 mg/hr.
This may be followed by 500 mg over 4 hours for two doses.
Depending upon the clinical response, subsequent doses of 500 mg
may be administered over 4-12 hours. The total amount administered
should not exceed 6000 mg in 24 hours.
As soon as the clinical condition of the patient permits, intravenous
administration should be discontinued and the drug should be
administered intramuscularly

BETA THALASSEMIA
Beta thalassemia is a genetic blood disorder that reduces
the production of hemoglobin.
Specifically, it is characterized by a genetic deficiency in
the synthesis of beta- globin chains.
Beta-globin is a component (subunit) of hemoglobin.

TYPES OF BETA THALASSEMIA


Thalassemia Major (Cooleys anemia)
Thalassemia Minor
-severe form of beta thalassemia
- presence of one normal gene and one with a - presence
of two mutation abnormal genes that cause either a
severe
- causes mild to decrease or complete moderate mild lack
of beta globin anemia. production.

ETIOLOGY OF BETA TAHLASSEMIA


Beta thalassemia is caused by a deficiency of Beta
globin inherited in an autosomal recessive pattern, which
means both copies of the HBB(Hemoglobin beta) gene in
each cell have mutations.
The parents of an individual with an autosomal recessive
condition each carry one copy of the mutated gene, but
they typically do not show signs and symptoms of the
condition.
The HBB gene provides instructions for making a
protein called beta-globin.
When there is a mutations in the HBB gene, it prevents
the production of any beta-globin.

CONTD
A lack of beta-globin leads to a reduced amount of
functional hemoglobin. Without sufficient hemoglobin,
red blood cells do not develop normally, causing a
shortage of mature red blood cells.
The low number of mature red blood cells leads to
anemia and other associated health problems in people
with beta thalassemia.

CONTD
Thalassemia minor- characterized by mild anemia
Symptoms of beta thalassemia major appear in the first
two years of life. Fatigue and weakness Pale skin or
jaundice (yellowing of the skin) Protruding abdomen
with enlarged spleen and liver Dark urine Abnormal
facial bones and poor growth A poor appetite.
Adolescents with the severe form of beta thalassemia
may experience delayed puberty

CONTD
Pathophysiology
In Beta thalassemia major, patients have severe anemia,
ineffective erythropoiesis, extramedullary hematopoiesis, and
iron overload resulting from transfusion and increased iron
absorption.
The skin may show pallor from anemia and jaundice from
hyperbilirubinemia.
The skull and other bones may be deformed secondary to
erythroid hyperplasiawith intramedullary expansion and
cortical bone thinning.
Heart examination may reveal findings of cardiac failure and
arrhythmia, related to either severe anemia or iron overload.
Abdominal examination may reveal changes in the liver,
gallbladder, and spleen.

CONTD
Patients who have received blood transfusions may have
hepatomegaly or chronic hepatitis due to iron overload.
The gallbladder may contain bilirubin stones formed as a
result of the patients lifelong hemolytic state.
Splenomegaly typically is observed as part of the
extramedullary hematopoiesis or as a hypertrophic response
related to the extravascular hemolysis
In addition to cardiac dysfunction, hepatomegaly, and
hepatitis, iron overload can also cause endocrine
dysfunction, especially affecting the pancreas, testes, and
thyroid.
Transfusion-associated viral hepatitis resulting in cirrhosis
or portal hypertension also may be seen

MANAGEMENT

Surgical Treatment
Splenectomy- decrease transfusion requirements
Cholecystectomy- Patients with thalassemia minor may
have bilirubin stones in their gallbladder and, if
symptomatic, may require treatment. Perform a
cholecystectomy using a laparoscope or carry out the
procedure at the same time as the splenectomy

CONTD
Treatment for beta thalassemia involves iron chelation.
1. Deferoxamine
2. Deferasirox
Deferoxamine is an intravenously administered chelation
agent.
Desferal (deferoxamine) chelates iron by forming a stable
complex that prevents the iron from entering into further
chemical reactions. It readily chelates iron from ferritin and
hemosiderin but not readily from transferrin; it does not
combine with the iron from cytochromes and hemoglobin. It
does not cause any demonstrable increase in the excretion of
electrolytes or trace metals.

CONTD..
Adverse Effects
Hypotension (with too rapid IV infusion) Pulmonary
edema with over 24 hr IV infusion Anaphylaxis (rare)
Renal failure Hepatic dysfunction Yersinia
enterocolitica, Y. pseudotuberculosis, and fungal
infectionsCautions In acute iron toxicity, give IV only to
patients with cardiovascular collapse or in shock Do
NOT administer by rapid IV Increased serum creatinine
(possibly dose related); acute renal failure and renal
tubular disorder reported NOT a substitute for standard
measures generally used in iron toxicity (eg, induced
emesis, gastric lavage) Risk of potentially fatal infections

GENETIC DISORDER-HEMOPHILIA
An illness caused by abnormalities in genes or in
chromosomes. It could sometimes be caused by
environmental factors. By some types of recessive gene
disorders confer an advantage in the heterozygous.
Prevents blood from clotting properly.
Hemophilia is a rare inherited disorder, in which the
blood doesnt clot normally. Hemophilia usually occurs
in males but there are rare exceptions. People may bleed
for a long period of time.
Also called as Christmas disease, Factor VIII defeciency
Disease.

CONTD
T here is no certainty of how hemophilia originated, in
the British royal lineage. The traditional view is that
there was a mutation in either Victoria's genes or in the
sperm of her father, Edward Augustus, Duke of Kent.
Victoria
It's caused by a defect in one of the genes that determine
how the body makes blood clotting factor VIII or IX.
These genes are located on the X chromosomes.

HOW DOES IT HAPPEN?

A man and a women both have 23 pairs of chromosomes.


The women have two X chromosomes; men have one X and
one Y. Hemophilia is a X linked genetic disorder. Meaning it
is passed on from mother to son on the X chromosome. But
still the child has a 50% chance of having hemophilia.

Hemophilia isnt cured(except by a liver transplant)


although it can be managed. 1 ,681 deaths per year. 1 40 per
month.

Recombinant factor VIII Monoclonal factor VIII


Desmopressin

SYMPTOMS
Bleeding
Bruising easily
clotting difficulty. T hey can use a new persons blood
and place the blood into the person who has hemophilia
and see how long it takes to clot.

CONTD
Hemophilia is an inherited disorder in which there is inability
to form an effective clot and hence causes prolonged bleeding
in a patient. It is seen exclusively in males. A person with
hemophilia does not bleed faster, only longer.
Hemophilia affects approximately 1 in 5,000 live male births.
There are two types of hemophilia - Hemophilia A and
Hemophilia B. Hemophilia A results from deficiency or
abnormality of factor VIII. Hemophilia B results from
deficiency or abnormality of factor IX. Disorder specialist
This is a type of disorder is a Chromosome disorder.
Both are inherited as sex-linked recessive disorder as the
genes responsible for factor VIII & IX are located on the X

THERAPY
Human factor VIII concentrates - They are plasma
-derived Factor VIII concentrates made from pooled
plasma from thousands of donors.
Recombinant Factor VIII concentrates - They are made
by recombinant technique and also contain albumin.
Porcine Factor VIII concentrates - They are used in
patients with inhibitors of Human Factor VIII. They do
not transmit Hepatitis or HIV.

LIFESTYLE OF THE PERSON

Such a child would have pain when walking. He/she


would have to take medicine for the pain especially
before or after doing
simple sports. He/she would
have to be careful not to get injured. He/she will not be
able to do many things like other people because there
are some things that can hurt him/her and make him/her
bleed. He/she will have to learn how to inject him/her
self the missing clotting factor. He/she would have to go
to a hemophilia treatment center. The child can get
disabling arthritis at any time and live with it for the rest
of his/her life.

PROGNOSIS

Such a person will live almost normal with effective treatment,


but if repeated bleeding incidents happen, it will cause my child
to have disabling arthritis in the joints. If my child gets disabling
arthritis he/she will have pain and reduced motion in the joints
because frequent bleeding incidents cause the synovium (a thin
lining inside the joint capsule) to absorb the blood lost from the
vessels and the synovium will stay swollen. Eventually the
cartilage will be eaten away by the enzymes from the swollen
synovium, which causes the bones to grind against each other.
The bones grinding against each other causes the pain and
reduced movement to the joints. Such a person with the disorder
is able to have children If only my child is the carrier- 50%
chance that his/her children will be affected. If both of them are
carriers- 75% chance that his/her children will be affected.

PROBABILITY OF A AFFECTED CHILD

If both are carriers -75% chance that another child will


be affected by the same disorder. If both are carriers
-75% chance that another child will be affected by the
same disorder

THROMBOCYTOPENIA

Thrombocytopenia and thrombopenia refer to a disorder


in which there is a relative decrease of thrombocytes
commonly known as platelets, present in the blood.

A normal human platelet count ranges from 150,000 to


450,000 platelets per microliter of blood. These limits
are determined by the 2.5th lower and upper percentile
so values outside this range do not necessarily indicate
disease. One common definition of thrombocytopenia
that requires emergency treatment is a platelet count
below 50,000 per microliter.

SIGN AND SYMPTOMS


Thrombocytopenia usually has no symptoms and is
picked up on a routine of full blood count(or complete
blood count).
Some individuals with thrombocytopenia may
experience external bleeding such as nosebleeds and/or
bleeding gums
Bruising particularly purpura in the forearms, may be
caused by spontaneous bleeding under the skin.
Petechia (pinpoint bleeds in the skin and mucous
membranes), may occur on feet and legs.

CONTD
Eliciting a full medical history is vital to ensure the low platelet
count is not due to a secondary process. It is also important to
ensure that the other blood cell types, such as red blood cells
and white blood cells are not also suppressed.
Painless, round and pinpoint (1 to 3 mm in diameter) petechiae
usually appear and fade, and sometimes group to
form ecchymoses. Larger than petechiae, ecchymoses are purple,
blue or yellow-green areas of skin that vary in size and shape.
They can occur anywhere on the body.
A person with this disease may also complain of malaise, fatigue
and general weakness (with or without accompanying blood
loss). In acquired thrombocytopenia, the patient's history may
include the use of one or several offending drugs. Inspection
typically reveals evidence of bleeding (petechiae or
ecchymoses), along with slow, continuous bleeding from any
injuries or wounds.

CONTD

Causes
The causes of thrombocytopenia can be inherited or
acquired.

TYPES
Decreased production
Can be due to the following reasons:
Dehydration Vitamin B or folic acid deficiency
12

Leukemia or myelodysplastic syndromeor aplastic


anemia
Decreased production of thrombopoietin by
the liver in liver failure
Sepsis systemic viral or bacterial infection
Dengue fever

CONTD

Hereditary syndromes
Congenital amegakaryocytic thrombocytopenia
Thrombocytopenia absent radius syndrome
Fanconi anemia
Bernard-Soulier syndrome, (associated with large
platelets)
May-Hegglin anomaly,
Grey platelet syndrome
Alport syndrome
WiskottAldrich syndrome

CONTD
Increased destruction can be due to immune or non-immune
reasons.
Idiopathic thrombocytopenic purpura
Thrombotic thrombocytopenic purpura
Hemolytic-uremic syndrome
Disseminated intravascular coagulation
Paroxysmal nocturnal hemoglobinuria
Antiphospholipid syndrome
Systemic lupus erythematosus
Post-transfusion purpura
Neonatal alloimmune thrombocytopena
Hypersplenism
Dengue fever
Gaucher's disease

CONTD
Medication-induced
Thrombocytopenia-inducing medications include:
Direct myelosuppression
Valproic acid
Methotrexate
Carboplatin
Interferon
Isotretinoin
Panobinostat
H2 blockers and proton-pump inhibitor

Other causes
Snakebite
Niacin toxicity
Lyme disease

DIAGNOSIS
Laboratory tests might include: full blood count, liver enzymes,
kidney function, vitamin B 12 levels, folic acid levels,
erythrocyte sedimentation rate , and peripheral blood smear.
If the cause for the low platelet count remains unclear, a
bone marrow biopsy is usually recommended, to differentiate whether
the low platelet count is due to decreased production or peripheral
destruction.
Thrombocytopenia in hospitalized alcoholics may be caused by
spleen enlargement, folate deficiency, and, most frequently, a direct toxic
effect of alcohol on production, survival time, and function of platelets.
Platelet count begins to rise after 2 to 5 days' abstinence from alcohol.
The condition is generally benign, and clinically significant hemorrhage
is rare. In severe thrombocytopenia, a bone marrow study can determine
the number, size and maturity of the megakaryocytes (the bone marrow
cells that release mature platelets).

FIG: PETECHIE

TREATMENT
Treatment is guided by the cause and disease severity.
The main concept in treating thrombocytopenia is to
eliminate the underlying problem, whether that means
discontinuing suspected drugs that cause
thrombocytopenia, or treating underlying sepsis.
Diagnosis and treatment of serious thrombocytopenia is
usually directed by a hematologist.
Corticosteroids may be used to increase platelet
production. Lithium carbonate or folate may also be used
to stimulate the bone marrow production of platelets.

CONTD..
Thrombotic thrombocytopenic purpura
Treatment of thrombotic thrombocytopenic purpura is a
medical emergency, since the hemolytic anemia and
platelet activation can lead to renal failure and changes
in the level of consciousness. Treatment of TTP was
revolutionized in the 1980s with the application of
plasmapheresis.

CONTD
Idiopathic thrombocytopenic purpura
Oral petechiae/purpura - Idiopathic thrombocytopenic
purpura
Many cases of ITP can be left untreated, and
spontaneous remission (especially in children) is not
uncommon. However, counts of under 50,000 are usually
monitored with regular blood tests, and those with counts
of under 10,000 are usually treated, as the risk of serious
spontaneous bleeding is high with a platelet count this
low. Any patient experiencing severe bleeding symptoms
is also usually treated.

FIG: ITP

CONTD
Heparin-induced thrombocytopenia
Discontinuation of heparin is critical in a case of HITT.
Beyond that, however, clinicians generally treat to avoid
a thrombosis, and patients started directly on warfarin
Congenital amegakaryocytic thrombocytopenia
Bone marrow/stem cell transplant is the only thing that
ultimately cures this genetic disease. Frequent platelet
transfusions are required to keep the patient from
bleeding to death until transplant is done, although this is
not always the case.

Congenital amegakaryocytic thrombocytopenia


Bone marrow/stem cell transplant is the only thing that
ultimately cures this genetic disease. Frequent platelet
transfusions are required to keep the patient from
bleeding to death until transplant is done, although this is
not always the case.

DIC-DISSEMINATED INTRAVASCULAR
CAOGULOPATHY

Also known as disseminated intravascular


coagulopathy or less commonly asconsumptive
coagulopathy, is a pathological process characterized by
the widespread activation of the clotting cascade that
results in the formation of blood clots in the
small blood vessels throughout the body. This leads to
compromise of tissue blood flowand can ultimately lead
to multiple organ damage. In addition, as the coagulation
process consumes clotting factors and platelets, normal
clotting is disrupted and severe bleeding can occur from
various sites.

Prognosis
Prognosis varies depending on the underlying disorder,
and the extent of the intravascular thrombosis (clotting).
The prognosis for those with DIC, regardless of cause, is
often grim: Between 10% and 50% of patients will
die. DIC with sepsis (infection) has a significantly higher
rate of death than DIC associated with trauma.

SUMMARY
The hematological disorders are the most common in
children because of their early occurrence and most
evident sign and symptoms.
The health care personnel mainly the nurse has to play a
major role in the health education of the care givers for
early detection of complications and treatment.