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

• Published in: Hematology (Luxembourg) Vol. 14; no. 3; p. 164
• Main Authors: Kar, Rakhee, Rao, Seema, Srinivas, Upendra M, Mishra, Pravas, Pati, Hara P
• Format: Journal Article
• Language: English
• Published: England 01-06-2009
• Subjects: 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; India
• ISSN: 1607-8454
• 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.