Sickle Cell Anemia

-Prajjwal Gautam

July | 2023
 Content
• Introduction
• Genetics of SCD
• Symptoms
• Diagnosis
• Tr e a t m e n t s
Introduction
• Sickle cell disease (SCD) was first reported by Herrick in 1910.

• SCD is one of the most common inherited life-threatening disorders in human, it predominantly
a f f e c t p e o p l e o f A f r i c a n , I n d i a n a a n d A r a b a n c e s t r y.

• Sickle cell disease (SCD) is a group of inherited red blood cell disorders.

• In someone who has SCD, the hemoglobin is abnormal, which causes the red blood cells to
become hard and sticky and look like a C-shaped farm tool called a “sickle.”
 Genetics Of SCD

• SCD is a genetic condition that is present at birth. It is inherited when a child receives two genes—one from each parent—that
code for abnormal hemoglobin.

• People who have sickle cell trait (SCT) inherit a hemoglobin “S” gene from one parent and a normal gene (one that codes for
hemoglobin “A”) from the other parent. People with SCD usually do not have any of the signs of the disease.

• If both parents have sickle cell trait (HbAS) there is a one in four (25%) chance that any given child could be born with sickle
cell anaemia.
Symptoms of SCD
• Signs and symptoms of sickle cell anemia usually
appear around 6 months of age.
• pain crises
• Swelling of hands and feet.
• Frequent infections.
• D e l a y e d g r o w t h o r p u b e r t y.
• Vi s i o n p r o b l e m s .
Complications of
SCD
• Stroke.
• Acute chest syndrom.
• Pulmonary hypertension.
• Organ damage.
• Blindness.
• Leg ulcers.
• Gallstones.
• Deep vein thrombosis.
• Pregnancy complications.
 Diagnosis OF SCD
• The best way to check for sickle cell trait or sickle cell disease is to look at the blood
using a method called high-performance liquid chromatography (HPLC).
• Blood test and genetic tests
• Genetic testing can help determine which type of sickle cell disease you have or can
h e l p c o n f i r m a d i a g n o s i s i f r e s u l t s f r o m b l o o d t e s t s a r e n o t c l e a r.
• Genetic testing can also tell whether you have one or two copies of the sickle
hemoglobin gene.
 Treatments of SCD

• Tr e a t m e n t s m i g h t i n c l u d e m e d i c a t i o n s a n d b l o o d t r a n s f u s i o n s .
• For some children and teenagers, a stem cell transplant might cure the
disease.
• Hydroxyurea (Droxia, Hydrea, Siklos).
• L-glutamine oral powder (Endari).
• Vo x e l o t o r ( O x b r y t a ) .
 SOURCES...
• The American society
• www.cdc.gov
• www.mayoclinic.com
• www.nhlbi.com
THANK YOU