title: 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 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.
authors.affiliation: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India. rakhee_kar@rediffmail.com
authors.forename: Rakhee
authors.initials: R
authors.lastname: Kar
authors.forename: Seema
authors.initials: S
authors.lastname: Rao
authors.forename: Upendra M
authors.initials: UM
authors.lastname: Srinivas
authors.forename: Pravas
authors.initials: P
authors.lastname: Mishra
authors.forename: Hara P
authors.initials: HP
authors.lastname: Pati
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004801:Eosine Yellowish-(YS) / Q000031:analogs & derivatives; D005260:Female; D005434:Flow Cytometry; D005500:Follow-Up Studies; D006403:Hematologic Tests; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D013102:Spherocytes / Q000473:pathology; D013103:Spherocytosis, Hereditary / Q000097:blood* / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D055815:Young Adult
chemical_list: C033531:eosin maleimide; D004801:Eosine Yellowish-(YS)