l

Hereditary spherocytosis

Hereditary spherocytosis
#00063893
Author: Rakesh Pimpaldara, MD,MBBS
Category: Red Cell: Hemolytic Anemia (HA) > HS/HE and RBC membrane or enzyme Disorders
Published Date: 12/10/2021

26 year boy, presented with complain of recurrent anemia and jaundice with huge spleenomegaly.

The patient had on and off anemia with jaundice since age of 10 year. Similar history was found in his mother. There was a history of tranfusion in childhood but no history of recent blood transfusion.

At present, his Hb is 8.4gm/dl with MCV: 81fl, MCH: 27pg, MCHC: 33g/dl, WBC: 7330/cumm, Platelet count 91000/cumm, Reticulocyte count 28% (corrected 16.8%), Bilirubin 4.3mg/dl with indirect bilirubin 4.0mg/dl.

Peripheral smear findings: Marked anisocytosis with microcytic anemia, many microspherocytes and increased polychromasia.

Based on clinical findings, history and PS findings, EMA (Eosin-5-maleimide) binding test by flowcytometry was orderd which shows low MFI ratio of 0.57 (range: 0.88-1.17) and confirmed the diagnosis of Hereditary spherocytosis.