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

Hematology. 2009 Jun;14(3):164-7. doi: 10.1179/102453309X402278.


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 intensity (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 beta 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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Eosine Yellowish-(YS) / analogs & derivatives
  • Female
  • Flow Cytometry
  • Follow-Up Studies
  • Hematologic Tests
  • Humans
  • India
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Spherocytes / pathology
  • Spherocytosis, Hereditary / blood*
  • Spherocytosis, Hereditary / diagnosis*
  • Spherocytosis, Hereditary / physiopathology
  • Spherocytosis, Hereditary / therapy
  • Young Adult


  • eosin maleimide
  • Eosine Yellowish-(YS)