‫بسم هللا ا لرحمن ا لرحيم‬

‫والصالة وا لسال م على‬

‫ا لمبعوث رحمة للعا لمين‬
‫سيدنا محمد وعلى آ له وصحبه أ جمعين‬
Approach to a Child
With Anæmia
By
Dr.Ahmed Noureldin Ahmed
MBBS, DCH, DTM&H (Cairo)
PHC Pædiatrician
Blood Elements
.
Formation of Blood elements
.
 Formation of RBCs in B.M
Pleuripotent Stem Cell
↓
Pro- Normoblast
↓
Basophilic Normoblast
↓
Polychromatic Normoblast
↓
Orthochromatic Normoblaqst
↓
Polychromatic Erythrocyte → Erythrocyte
.
.
.
.
.
.
.
.
.
.
.
.
 Developing RBCs
1- Early& Late Pro-erythroblast
.
Basophilic Erythroblast-2
.
 Definition
Anemia is a decrease in Hb below the
reference level for age and sex
Anaemia is diagnosed if the Hb:
% ►in an adult male is < 13 gm
% in an adult female is < 12 gm►
% in a child (3-12yrs) is < 11 gm►
% in a pregnant women is < 11 gm ►
 How to diagnose Anaemia ?
History & Physical examination►
: Investigation►
■ Blood Indices :
(Hb, RBCs ,PCV ,MCV , MCH , MCHC, RDW, Mentzer index)

■ Blood film
) shape, size , staining, abnormal cells (

special investigation ■
).Iron studies, B.M exam (
 CBC by Coulter Counter
: Measured Values
RBCs count 2- MCV 3 - Hb in gm -1
: Calculated Values
1- MCH ( in pgm/cell) =(Hb in gm÷ RBCs) x 10
N. 27 – 32 ( ↓ in Mic.hypo Anemia , ↑ in Macro An)
Hct (PCV) in % = RBCs x ( MCV/10) -2
N. ( M 40-54% , F 37-47% , Children 36-44%)
)MCHC (in gm/dl) = (Hb in gm / Hct)x 100 -3
N. 30-35gmg (↓ in mic.hypo An , ↑ in microspherocytosis)
.RDW = coefficient of variation in RBCs size -4
N.11.5 – 14.5 % , (↑ in IDA , N or ↓ in thalassemia trait)
Mentzer index = MCV ÷ RBCs -5
IDA < 13 = Thalassemia trait = 13 >
 1- MCV
It is the mean volume of one RBC
MCV = ( PCV / RBCs ) X 10
X 10 = 90 ) 5 / 45(
)N → 80 – 96(
• > 96 in Macrocytosis
• < 80 in Microcytosis
• N in Normocytic Anemia
 PCV ( Hematocrit ) -2
.It is the volume of packed RBCs in 100ml of Blood •
PCV = RBCs x ( MCV/10) = 5 x ( 90/10)= 45%
• Males : 40- 54 %
• Females 37- 47%
Children (2-12Yrs) 36-44%● •
PCV below lower limit = Anaemia •
PCV above upper limit = Polythythaemia •
Red Cell Distribution width -3
(RDW)
It is a quantification of anisocytosis
( variation in RBCs size)
It is the coefficient of variation of red cell
volume distribution
A normal value is helpful in distinguishing
thalassemia minor from IDA as a cause
of microcytosis
Practically , when it is elevated in a patient
with microcytosis , IDA is more likely
cause of anemia ,not thalassemia trait
. or N. value points to thalassemia trait ↓
 Normal Values in Children
Lower limit of normal Hb (3rd centile)
Lower limit (3rd centile) & upper limit ( 97th centile) of MCV

MCV MCV Hb Age

Upper limit lower limit In gm/dl .In yr
85 72 11.2 4 - 1

87 75 11.5 7 - 5

89 76 11.8 10 - 8

90 77 12 14 - 12

92 78 13 ♂ 17 - 15
12 ♀
95 80 14♂ 18 >
12 ♀
 What abnormal Results of CBC
? means
:High Numbers of RBCs
Low oxygen tension in the blood ■
Congenital heart Disease☻
Cor pulmonale☻
Pulmonary fibrosis☻
Polythythaemia Vera ■
Dehydration ■
Ch.Renal disease with ■
Erythropoietin production ↑
 Low numbers of RBCs may
indicate
Blood loss : a) Anaemia b) haemorrhage -1
: Bone marrow failure due to-2
)tumor ,radiation, toxin, fibrosis (
Erythropoietin deficiency -3
)renal disease secondary to(
)RBC destruction( Hemolysis-4
) B6↓ , B12↓ folate ↓ ,iron ↓ ( Malnutrition-5
Leukaemia -6
multiple Myeloma -7
 Classification of Anemia
.
Blood Film
a)Hypochromic Microcytic b)Macrocytic& hypersegmented cell(arrow) c) Megaloblast in B.M
d) Spherocyte ( arrow) e) Sickle cell( arrow)& target cell f) Howell-Jolly bodies g) Blister cell in
G6PDD
Normal CBC
.
Normal CBC
.
 Different types of WBCs
Eosinophil Band Cell Basophil •

Lymphocyte
Neutrophil Atypical Lymphocyte
 Iron Metabolism
of the total Fe is circulating in RBCs 70% ►
of the body Fe is stored in R.E.S 25% ►
(Liver,Spleen&Bone marrow)
Fe is stored as Ferritin & Hemosiderin ►
of the total body Fe is circulating in the 0.1% ►
plasma bound to Transferrin
There is considerable interchange between the ►
.store and the plasma
 Iron Absorption
:
• Normally 1mg ( 18 μmol) Fe is absorbed each day on
ordinary diet .
• Within the intestinal cells some of Fe combines with
apoferritin to form ferritin which is the storage form .
• Factors affecting Fe absorption:
• 1- Ferrous Fe is absorbed better than ferric Fe
• 2- Gastric acidity helps to keep Fe in the ferrous state
• 3- Inorganic Fe is absorbed better than organic Fe
• 4- Reducing agents ↑ Fe absorption
• 5- Fe absorption is ↑ with low Fe stores and ↓ in Fe overload
• 6- ↑ erythropoietic activity ( bleeding , haemolysis , high
altitude ) ↑ absorption
• 7- Alcohol ↑ absorption
• 8- Phosphate & phytate ↓ Fe absorption
Iron Transport in the plasma
* Normal Fe loss is small & normal Fe stores are large.
It would take about 3 years to become Fe deficient on a
completely iron-free diet . But if there is any abnormal loss ,
it’ll be much shorter Fe is transported in the plasma
in the Ferric form, attached to Transferrin , at a concentration
of about 18μmol/L, but it is capable of binding
54μmol/L
therefore , it is about 1/3 saturated
* Free Fe is toxic , so it is all bound to protein.
* In the plasma it is bound to transferrin
* In the stores it is bound to protein in Ferritin & Haemosiderin
* In RBCs it is incorporated in Hb.
* There is no significant Fe excretion.
* Body Fe stores are determined by control of absorption
 Iron Transport in the plasma
plasma Fe with a ↑ transferrin is more ↓ •
.suggestive of IDA than a ↓ plasma Fe alone
A very low Ferritin almost certainly •
confirms the Dx of IDA, but a normal or
. high levels do not exclude it
Plasma Fe concentration gives no •
.information about the state of stores
Hb Synthesis
 Foods that affect the bioavailabjlity of
nonheme iron
: Decreased by
Tannates ■ Phosphates ■ oxalates ( found in cereals) ■
eggs ■ Cheese ■ Tea ■

: Increased by
Citrate ■Fructose ■ Ascorbic acid ( in red beans, ■
banana and cauliflower)
Fruit juice 30 minutes before meals ■
 Iron Deficiecy Anemia
. IDA is the most common anemia of infancy & childhood
The body of the newborn infant contains 0.5 gm Fe►
The adult’s iron content is 5 gm ►
To make up the 4.5 gm difference , 0.8mg Fe must be absorbed each day ►
. during the 1st 15 years of life
.An extra amount ( 0.5 - 1 mg / day ) is required to balance losses ►
To maintain a positive Fe balance during childhood , 1.5mg Fe must be ►
. absorbed each day from the diet
Because < 10 % of dietary Fe is absorbed from the average diet, ►
. 8 – 15 mg Fe daily is necessary for optimal nutrition
During the 1st years of life ,when relatively small amounts of Iron – rich►
foods are ingested , it is difficult to attain these amounts
The infant’s diet should include Iron – fortified foods , such as cereals or►
. Iron – supplemented formulas , by no later than 6 months of age
.IDA develops when there is an inadequate amount of Fe for Hb synthesis ►
It is the most common cause of anemia during childhood esp.between 6-
24months
 IDA
Iron stores are enough during the 1st 4mo, ►
thereafter Fe needs to be absorbed to keep the
.demands for rapid growth
For this reason IDA is common between 6-24 mo ►
this may occur earlier in cases of less stores of ►
Fe ( premature – SBW – Perinatal blood loss )
Dietary habits play a role ( as exclusive breast
feeding > 6 mo without supplementation )
IDA affects behaviour , cognitive function,attention ►
.and performance of affected children
 IDA
In infants, early introduction (at age 6 or 8 months) of whole
cow's milk into the diet is clearly associated with IDA and
patients consuming larger amounts of milk are at higher risk of
:anemia . This is due to three factors
Cow's milk exerts a direct toxic effect on the intestinal mucosa )1
of infants, leading to prolonged microscopic blood loss in the
.stools
The caloric value of whole cow's milk is high due to fat content, )2
decreasing the appetite and leading to less intake of potential
.iron-rich foods
. The bioavailability of iron in cow's milk is low )3
Accordingly, the AAP recommends that cow's milk not be used in
the first year of life. Infants should receive breast milk or iron
fortified formulas for the first year of life, and iron-fortified
.cereal should be added at the age of 4-6 mo
Which Pediatric groups
?need screening for IDA

LBW -1
Use of formula not fortified with iron -2
Low socioeconomic status -3
Exclusive breast feeding ( without solid or -4
.formula supplementation) beyond 6 mo
. Teenage females who have heavy menses-5
As a rule, the smaller the baby ,the earlier &
.greater the amount of iron needed
LBW (1000- 1500 gm) needs 2-3 mg/kg/day
(beginning at 2 mo.of age )
Causes of IDA
Poor intake -1
Decreased Absorption -2
Increased demands -3
.Blood loss -4
IDA resulting from blood loss can occur in
the prenatal , perinatal and postnatal
period
 Clinical presentation
History
Dietary History
Presence of Pica,Geophagia (IDA,Lead poisoning)
History of Blood loss
Prenatal,perinatal and postnatal Hx, Family Hx
Any medication
Symptoms : anorexia, easy fatigability, apathy ,
Pica and irritability ( due to deficiency in tissue
iron-containing enzymes)
 Physical Examination

Mild IDA : (Hb 7 – 10 gm/dl)is relatively asymptomatic

Moderate IDA : palor , glossitis( atrophy of the
papillae of the tongue) , angular stomatitis ,
koilonychia , brittle nail and brittle hair , candidiasis
Severe IDA : tachycardia , a systolic ejection murmur
.at the Lt upper sternal border
Very severe IDA ( Hb < 3gm%) :Parotid enlargement ,
signs of CHF ( tachcardia, S3 , cardiomegaly ,
hepatomegaly , distended neck veins and rales on
lung auscultation)
 Sequences of IDA
Iron Depletion (depleted iron stores) -1
a) ↓ marrow stainable Fe
b) ↓stainable sidroblast ferritin
c) ↑ Erythrocyte Protoporphyrin
: Iron Deficiency without Anemia -2
a)Absent marrow stainable Fe
b) ↓ serum Fe , ↑ TIBC , ↓% saturation
:IDA -3
Hypochromic microcytic film, ↑RDW ,↓Hb ,
↓MCV
 Laboratory Findings
, CBC : ↓ Hb , ↓ PCV , ↓MCH , ↓ MCV -1
Mentzer Indez >13 , ↑ RDW ( > 16 )
Blood Film: Microcytic Hypochromic, -2
Normal Reticulocyte
Iron Study : ↓ Serum Fe , ↓ Ferritin , ↑TIBC -3
saturation ( Fe/TIBC) , ↑Erythrocyte % ↓
protoporphyrin
 Diagnosis
The diagnosis of iron deficiency anaemia relies •
on a good clinical history with questions about •
dietary intake, regular self-medication with •
NSAIDs and the presence of blood in the faeces
(which may be a sign of haemorrhoids or
carcinoma of the lower bowel). In women, a
careful enquiry about the duration of periods, the
occurrence of clots and the number of sanitary
towels or tampons used (normal 3-5/day)
.should be made
 Clinical Hints
Fe + ↑ TIBC + ↓Ferritin = IDA↓ -1
. Fe + ↓TIBC + ↑Ferritin = Anemia of Ch.dis↓ -2
Fe + ↓ TIBC + ↑Ferritin = Ch.Hemolysis↑ -3
Microcytosis disproportioate to Anemia = -4
.Thalassemia
:Failure of Microcytic anemia to responds to Fe -5
a) Wrong Dx b) Persistent bleeding
c) Malabsorption d) Non-compliance
 Investigation of Unexplained
Hypochromic Microcytic Anemia
Blood film : a) RBCs morphology -1
b) reticulocyte count
Iron Studies : serum Fe,TIBC , % saturation -2
)N.1/3 saturated i.e 18μmol/L(
: Search for GIT bleeding -3
.a) Fecal occult Blood b) Endoscopy c) Angio
Marrow aspiration : a) stainable Fe stores -4
b) Ring Sideroblasts
Urinary Hemosiderin : ch.i.v hemolysis -5
Hb electrophoresis ; ↑ HbA2 → β-thalassemia -6
 DDx of IDA
Anemia Thalass. Thalass. IDA
.of ch.dis Major Trait
or N↓ ↓ ↓ ↓ MCV
↓ ↓ N ↓ RBCs
↓ ↑ N ↓ Fe
↓ N or ↑ N or N ↑ N or TIBC
↓ ↑ N ↓ saturat%
↑ N or ↑ N ↓ Ferritin
N β↑@ N Β↑- @N ↓ HbA2
N ↑ N ↑ RDW
 Management of IDA
Treatment with multivitamins containing
iron is inadequate once the child is
anemic. Oral ferrous sulfate, at a
dose of 3 mg/kg of elemental iron
for mild anemia or 6 mg/kg for severe
anemia should be given. It should be
continued for 2-3 months after
normalization of blood counts to replete
the total body iron stores. The liquid
can stain the teeth so it should be given
in juice rather than dropped directly into
the mouth. Avoid giving it with milk as
milk interferes with its absorption
 Treatment of IDA
Regular response to adequate amounts of Fe is a good ♣
! diagnostic and therapeutic test
Oral Fe ( sulphate , gluconate , and fumarate) provide ♣
. inexpensive and satisfactory therapy
No evidence that addition of trace elements or other ♣
.hematinics increase response to Fe
. Dose: 3 – 6 mg /kg/day ( elemental Fe) for 3-6 months ♣
.Within 4 days after Fe , peripheral reticulocytosis is seen
, Family Education: ↓ amount of milk to 500ml/day ►
amount of iron – rich foods , correct faulty habits and ↑
. treat the cause of IDA
 Available Fe preparations

Ferrous Fumarate Tablets 200mg ( 65mg elementalFe) -1

Glucofer(Ferrous gluconate 300mg)= 35mg elemental Fe -2

Fefol ( Ferrous sulfate 325mg) = 105 mg elemental Fe -3

Ferrose Syp (150mg Ferrous sulfate)=30 mg elemental Fe -4

Fer in sol , Kdiron Drops  (Ferrous sulfate) -5

ml = 75 mg ferrous sulfate = 15 mg elemental Fe 0.6
 Food Content of Iron
Fe in mg Food Fe in mg Food
mg 6.6 cup Lentils 1 mg 0.25 One Apple

mg 3.25 cup Peas 1 mg 0.37 One banana

mg 8.84 1cup Soybean mg 1.02 Grapefruit(I cup)

mg 5.8 1cup White flour mg 0.42 Grapes ( Cup )

mg 6.4 cup Spinach 1 mg 3 Raisins ( cup )

mg 2.33 gm Shrimp 100 mg 75. 2 gm Meat 100

mg 1.30 100gmTuna mg 1.25 gm Chicken 100

mg 2.5 gm Sardine 100 mg 6 Duck ½

mg 5.25 cup Beans 1

Model of the Hb Molecule
showing ά ( pink) & β(blue) chains

Hb structure
 Hb
Hb is a tetramer of 4 globin chains
covalently linked to heme and
arranged in 2 polypeptide
chains.Adult haemoglobin (Hb A)
consists of two α and two β globin
chains. A haem group is bound to
each globin chain; the haem group
has a porphyrin ring with a ferrous
atom which can reversibly bind one
O2 mol
Some Types of Hb
 Hb Abnormalities
: Abnormality occur in
Globin Chain production → Thalassemia -1
Globin Chain Structure → Sickle cell Disease -2
Combined defects of Globin Chain production & -3
Structure →Sickle Cell- βthalassemia
Why coexistent IDA increases the difficulty of ►
? diagnosing β-thalassemia
IDA can cause ↓ Hb A2 , masking the diagnosis of
thalassemia trait ,which is diagnosed by ↑HbA2 in Hb
Elecrophoresis. With Fe replacement ,HbA2 will rise to the
.expected elevated levels in β- thalassemia trait
Hb Electrophoresis

                                           
                                           
                                           
                                           
                                           
              

                                                            
Thalassemia
 Thalassemias
are genetic disorders of Hb synthesis ►
with reduced production of one or more of
.the globin chains
underproduction of Hb and imbalance ►
globin chain synthesis with precipitation
of excess chain→formation of Heinz
.bodies
These inclusion bodies increase the ►
rigidity of RBCs → their destruction either
in B.M or in the circulation or in both
 Clinical Categorization of
β -Thalassemia
Thalassemia Trait ►
An asymptomatic,detected only on screening
)heterozygous carrier state (
Thalassemia Intermedia►
Moderate anemia & splenomegaly.Patients may
have bone deformities,recurrent leg ulcers,
infection and gall stones.( Hb 7-10gm/dl)
Thalassemia Major ( Cooley’s anemia)►
With severe anemia requiring regular transfusion
 Features of β- thalassemia

β-thalassemia trait(minor)
CBC►↓ MCV , ↓ MCH , ↓Hb , ↑ RBCs -1
Blood Film►Basophilic stippling,target cells -2
. poikilocytes
HE ►↑ HbA2 ± ↑ HbF -3
Iron study ► Normal serum Fe & Ferritin -4
. No response to iron therapy -5
β-thalassemia Intermedia
More severe than thalassemia.trait , but milder
than thalassemia.Major
 β-thalassemia Major(Cooley’s Anemia)

: presents during the 1st year of life with -1

FTT , intermittent infections , severe anemia ,
hepatosplenomegaly , bone expansion ( due to extra-
medullary hemopoiesis) , the classical thalassemia facies
X-Ray ►Hair-on- end arrangement of bone trabeculae -2
CBC► ↓↓Hb , ↓↓ MCV , ↓ MCH , ↑ Reticulocytes , Normal -3
WBCs & Platelets ( unless hypersplenism is present )
Blood Film ►Tear drops , target cells , Wafer cells , -4
hypochromic microcytic picture
TIBC is saturated , ↑ serum Fe & Ferritin -5
Hb. E. ► ↑↑HbF ( > 70% ) , ↑ HbA2 , ↓ or absent HbA -6
 β - Thalassemia
a)A child with β–thalassemia showing typical facial features
b) Hair-on-end appearance .
c) X-Ray show expansion of the marrow and thinned cortex
B-thalassmia
 Management
Hypertransfuse to maintain Hb > 10gm/dl -1
Folic acid supplement -2
Splenectomy , if indicated -3
Iron chelation ( desferrioxamine ) as early -4
as possible , ( may cause cataract )
Genetic counselling -5
HBV vaccination -6
Bone marrow transplantation-7
 Sickle cell Syndrome
Sickle cell anemia is an autosomal recessive disorder that
results from a substitution of valine for glutamine in the
β-globin chain. This substitution results in alteration of
the Hb structure.Under deoxygenated conditions
aggregation of Hb into long polymer that distort RBCs
.into a sickle shape
Sickling shortens RBC survival and results in a
ch.hemolytic anemia. Sickled cells also cause
microvascular obstruction, which leads to tissue
.ischemia and infarction
The sickling process is accentuated by : hypoxia , acidosis,
.dehydration,high or low temperature
If only one of the two β-globin genes is affected , the
patient has Sickle trait ( heterozygous state )
If both β- globin genes have the genetic substitution,the
patient is homozygous for Hb S and has Sickle cell
.anemia
Newborn screen for sickling is routinely done in all hospitals►
 Sickle Syndromes
Sickle cell Disease
SS = sickle cell anemia
AS = sickle cell trait
: Sickling is precipitated by
Infection – dehydration – cold – acidosis – hypoxia
Sickle cell trait ( Hb AS )
Hb A , 40 % Hb S , 2-3% Hb A2 55-60%
Normal life expectancy and usually asymptomatic *
Protected against Plasmodium Falciparum Malaria •
Rarely can cause Papillary necrosis → Nocturia &* •
painless hematuria, and inability to concentrate the urine
Bacteruria during pregnancy •
 Sickle cell Anemia ( Hb SS )

a homozygous state ( 85% HbS , 10% Hb F ) -1

Usually presents in childhood with anemia and mild Jaundice -2
Hand and Foot Syndrome (dactylitis) is common with painful -3
swelling of fingers and toes( due to symmetric infarction in
metacarpals,metatarsal, & phalanges )
In older patients Vaso-occlusive problems occur owing to -4
.sickling in the small vessels of any organ
:Typical Sickling Crises include
Bone pain → commonest 2- Chest → pleuritic -1
pain,fever,cough ,pulmonary infiltrates, resemble pneumonia
Cerebral → hemiparesis,fits 4- kidney → papillary necrosis -3
Spleen → Painful infarcts 6- Penis → priapism -5
. Attacks of pain with mild fever last from few hours to few days
 Varieties of Sickle cell Crisis

Hemolytic crisis -1
Sepsis (Salmonella infection) or associated G6PDD ; relatively uncommon.(10%),it lasts
2-3wks.It is marked by abdominal pain , fever , jaundice , tender hepatomegaly,& ↑in
transaminases
Aplastic Crisis -2
Due to Parvovirus infection or folate deficiency , ↓ Reticulocyte
Thrombotic Crisis -3
The commonest . It may affect abdomen , lung , brain
.Infarcts are precipitated by tissue hypoxia
. May be accompanied with fever , fits , dyspnea
Complications : hyposplenism, aseptic necrosis of bone ,renal failure
Sequestration Crisis -4
Most serious esp. in infants ( due to hypovolemia) rapid onset hepatosplenomegaly
As the sickled cells traverse the spleen,they cause microvascular obstruction,infarction
and fibrosis of the spleen.( autoinfarction of the spleen)
 Long – term Problems

: Susceptibility to infection -1
Parvovirus and strept.pneumonia → fatal meningitis
Salmonella → osteomyelitis
: Ch. Leg ulcer -2
Due to ischemia
: Gallstones -3
From persistent hemolysis
Aseptic necrosis of femoral head -4
Retinal detachement & proliferative retinopathy → -5
Blindness
Ch.Renal disease -6
 Investigations

% CBC ► Hb 6 – 8 gm % , Reticulocytes ► 10 – 20 -1
Thrombocytosis , Leucocytosis
: Blood Film ► Post-splenectomy features -2
Howell Jolly bodies – Pappenheimer bodies – Target cells
- – Spur cells- Spherocytes - Schizocyte
Induce Sickling by Na Metabisulphite -3
.Hb E -4
Hb SS , no Hb A
Hb SS and 2 – 20% Hb F 95% – 80
 Management

Steady state anemia ► No treatment -1

Avoid precipitating factors -2
(infection, dehydration , cold , acidosis , or hypoxia)
prophylaxis to prevent pneumococcal infections ► Polyvalent -3
.anti-pneumococcal Vaccine , Long term oral penicillin 250 mg BID
► Acute attacks -4
i.v. fluids (to prevent dehydration) - O2 - Antibiotics – analgesia
( acetaminophen & codeine) - transfusion in severe anemia
Folic acid to pregnant women & to patients with severe hemolysis -5
Exchange transfusion ► in recurrent crisis -6
Splenectomy ► may be life saving in children with splenic sequestratn -7
Hydroxyurea ► ↓ episodes of pain,& the acute chest syndrome -8
( Hydroxyurea has as one of its side effects the ability to increase HbF
).cells with ↑ HbF are less prone to sickle -
.Other agents that ↑ HbF are 5-azacytidine , Recombinant human Erythropoietin -9
 Reducing Iron accumulation
due to repeated Blood Transfusion
Chelation therapy: s.c or i.v deforoxamine -1
Splenectomy : used in thalassemia & in sickle cell -2
.patient with hypersplenism
Diet : drinking tea with meals reduce dietary iron -3
absorption, especially in thalassemia intermedia , in
.which the bulk of excessive iron is dietary in origin
:Automated Erythrocytapheresis -4
May markedly reduce transfusional iron loading in
.sickle cell disease
 Alfa - Thalassemia

A form of alpha thalassemia occurs

when any number of the four
genes that control alpha globin
production are missing, thereby
causing an excess of non-alpha
globin chains. The various forms
of alpha thalassemia with their
:genetic correlate are listed below
A- 4 normal alleles → Normal
B- 3 normal + 1 missing gene → Silent carrier
C- 2 normal + 2 missing genes → Thalassemia Trait
D- 4 missing genes → Hydrops Fetalis
 Alfa- Thalassemia
Silent carriers are missing1 alpha gene.
They have no clinical abnormalities. Their
hemoglobin, and hemoglobin
electrophoresis are normal and their MCV
is borderline normal. Those with alpha
thalassemia trait are clinically normal,
but their Hb is slightly low and their
hemogram demonstrates ↓MCV. Their
Hb.elecrophoresis is normal unless it is
done in the newborn period at which time
HbBarts is present
 Hb H & Hb Barts
When 4 beta chains clump together, Hb H is •
• formed. In infants, gamma chains predominate
over beta chains, and Hb Barts (four gamma
chains) is formed. HbH and Hb Barts are both
useless, with no effective oxygen carrying
capacity.The abnormal Hb H exists (in varying
amounts) in all 4 clinical alpha thalassemia
categories. Similarly in newborns, Hb Barts exists
in varying amounts in all alpha thalassemia
categories. Hb H and Barts do not cause the
degree of ineffective erythropoiesis seen in beta
thalassemia. Therefore, the classical "thal facies",
"hair on end" skull X-rays, and
hepatosplenomegaly, all typical of beta
thalassemia, are not seen to such degree in
severe alpha thalassemia.
 Hb H
,The name Hb H disease is a misnomer
.it is not a disease, but rather a condition
,People with Hb H condition can live healthy
.long lives
They are not transfusion dependent. People with Hb H need
to avoid all forms of supplemental iron. Since the bone
marrow of thalassemia patients requires excess folic acid
(due to erythroid hyperplasia), most clinicians advise
lifelong supplementation of 1 milligram daily of folic acid to
avoid relative folate deficiency. During times of severe
illness, or in pregnancy, the Hb may drop significantly
below baseline in Hb H disease, and a transfusion may be
recommended. Again, iron is generally not deficient and,
thus iron supplementation is not helpful, nor is it
.appropriate
 Case Study 1
year old ♀ is to have Hb 10.6gm/dl & MCV 65. She 15
reports regular menses , lasting 4-5 days each
cycle. She has no specific complaints.She is unawre
of a family Hx of anemia. Her diet appears to be
adequate.P.E is unremarkable.No
.hepatosplenomegaly or jaundice were detected
? What is the most appropriate management
a) Start on oral contraceptive and recheck CBC in 2 mo
b) Start an empiric Fe while waiting results of Hb electr.
& Fe studies and recheck CBC if Fe is deficient
c)Check for Hb Barts, if not present starts on Fe tab
.and recheck CBC in 2 mo
d) Order Hb electr.,if Hb H is not found starts Fe tab,
while awaiting Fe studies results and recheck CBC
.in 2 mo if IDA was present
 Answer is (b)
The 2 most likely etiologies of the anemia in
.this young lady are :IDA or a form of thala
She could be managed with a trial of Fe for
one month.If a repeat CBC shows no
change , then either alfa or beta thalass
should be considered. Hb elect.would be
. the next step if Fe trial fails
An ↑ in HbA2 is very suggestive of β-thala.trait
( due to mild anemia in this case)
If Hb elect is normal or near normal, alfa
. thalassemia is the most likely cause
 Indicate whether Fe supplement is indicated or -2
?contraindicated in each of the following clinical situations
a) Menstruating ♀ with Hb 10gm/dl with no known
hemoglobinopathy
b) β-thala.patient who just lost a modest amount of blood
from a scalp lacerations, his Hb was 9.5gm/dl
c) Healthy alfa thalassemic ♂ who wants to build up his Hb
.to run a marathon
d) Menstruating ♀ with alfa thala.trait who has had very
heavy and prolonged periods for the past year. Her Hb is
8gm/dl and her Fe and Ferritin shows severe IDA
 Answer
4a. Fe is indicated as a therapeutic trial. But if no
improvement in the Hb results, then a
thalassemia is possible

4b. Fe is contraindicated since it will not improve

the Hb and it will add to the potential for iron
toxicity

4c. Fe is contraindicated, since it will not improve

his Hb and it will add to the potential for iron
toxicity

4d. Despite the presence of thalassemia, iron

deficiency is documented by laboratory
studies, so iron supplementation is indicated
until iron deficiency resolves. Once IDA is no
longer present, iron supplements become
contraindicated
 Q3: Which of the following finding would distinguish
? β-thalassemia trait from IDA
a) Microcytic RBCs
b) Absence of anemia
c) Elevated Hb A2 level
d) Normal Transferin saturation
e)Normal serum Ferritin concentration
-------------------------------------------------------------------------------
?Q4: Persons who have sickle cell trait have which of the following
a) Impaired growth and development in childhood
b) Increased incidence of hematuria
c) Impaired ability to concentrate urine
d) Increased mortality rate in pregnant women
e)Increased incidence of splenic infarction with high altitude hypoxia
Always Together
.
Dr.Ahmed
.

Noureldin