Chart-5

 A 6year old child presented with recurrent abdominal pain and respiratory infections.

O/E: Pallor, stunted growth noted.

Laboratory findings:

Hemoglobin                        -    6.5gm/dl

Reticulocyte count              - 6%  

Peripheral blood smear: 

A. Interpret the peripheral blood smear. 

• RBCs are normocytic normochromic, many polychromatophilic RBCs and sickle cells are seen 

• WBCs are normal in number, morphology and distribution 

• Platelets are adequate 

B. What is the diagnosis? 

• Sickle cell anemia 

C. What is the molecular abnormality seen in this disorder? 

• Substitution of valine in place of glutamic acid in the 6th position of beta chain of hemoglobin located on chromosome 11 (β6 glu-val) forms Hb S 

D. Name two other investigations to confirm the diagnosis. 

1. Sickling test using reducing agent like 2% sodium metabisulphite or sodium dithionite 

2. Hemoglobin electrophoresis/High performance Liquid Chromatography (HPLC)- for the presence of HbS 

E. Name the syndromes/crises associated with this disorder. 

1. Vaso-occlusive crisis (sickling crisis) 

2. Hemolytic crisis 

3. Aplastic crisis 

4. Sequestration crisis