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

Authors: Kar, Rakhee; Rao, Seema; Srinivas, Upendra; Mishra, Pravas; Pati, Hara

Source: Hematology, Volume 14, Number 3, June 2009 , pp. 164-167(4)

Publisher: Maney Publishing

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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.

Keywords: EOSIN-5-MALEIMIDE; HEREDITARY SPHEROCYTOSIS; CLINICO-HEMATOLOGICAL PROFILE

Document Type: Research Article

DOI: http://dx.doi.org/10.1179/102453309X402278

Affiliations: Department of Hematology, All India Institute of Medical Sciences, New Delhi, India

Publication date: 2009-06-01

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