Clinico-hematological profile of hereditary spherocytosis: experience from a tertiary care center in North India

Abstract

Hereditary spherocytosis (HS) is an inherited membranopathy characterized by phenotypic and genotypic heterogeneity. This study describes the clinico-hematological profile of 70 HS patients diagnosed at a tertiary care center in North India over a period of five years. Patients commonly presented with intermittent jaundice (82·9%), pallor (80%) and dark colored urine (11·4%). The common signs were splenomegaly (92·9%), hepatomegaly (50%), cholelithiasis or choledocholithiasis (36·8%) and hemolytic facies (10%). Family history was contributory in 28·6% patients. Blood transfusion (BT) requirement was present in 35·7% patients. Unconjugated and conjugated hyperbilirubinemia was seen in 89·1 and 10·9% patients respectively. At presentation, the hemoglobin ranged from 3–14 g/dl with a mean of 9·37 g/dl (SD2·43). Spherocytes were seen in 88·6% and incubated Osmotic fragility test (OFT) was positive in 88·2% patients. The Eosin-5-maleimide (EMA) flow cytometric test was done in 28 patients. Mean fluorescence intensiy (MFI) for normal subjects was 11861·5 (SD-883·51) and for confirmed HS patients was 7949·3 (SD1304·1). Taking the MFI range of 5341·1–10 557·5 for HS, eight cases of suspected HS/undiagnosed hemolytic anemia with a negative (n=5) or equivocal (n=3) incubated OFT were diagnosed as HS. An increase in HbF level was seen in 10 cases ranging from 2·1 to 17·7% with a mean of 5·66%, three of these had associated β thalassaemia trait. Twelve patients (17%) underwent splenectomy and 91% of them did not require any BT post-splenectomy. Among the patients treated conservatively 49% had persisting pallor and 16·3% had transfusion requirement.