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  • Title: HbSD-Punjab: clinical and hematological profile of a rare hemoglobinopathy.
    Author: Oberoi S, Das R, Trehan A, Ahluwalia J, Bansal D, Malhotra P, Marwaha RK.
    Journal: J Pediatr Hematol Oncol; 2014 Apr; 36(3):e140-4. PubMed ID: 24276032.
    Abstract:
    PURPOSE: Compound heterozygous HbSD-Punjab is an uncommon hemoglobinopathy encountered in Indians. Limited literature is available about its clinical course. The aim of this study was to describe the clinical and hematological profile of HbSD-Punjab patients from North India. MATERIALS AND METHODS: HbSD-Punjab patients diagnosed in the hematology clinics between year 2000 and 2010 were reviewed retrospectively. The diagnosis was established using high-performance liquid chromatography, molecular analysis, and family screening. Clinical details, laboratory parameters, and therapy details were recorded from case records. RESULTS: Ten patients were identified. Median age at onset of symptoms was 3.5 years (interquartile range [IQR], 1.9 to 7.2). Clinical presentation included: anemia in 3, painful vaso-occlusive crisis in 2, acute chest syndrome in 2, and 3 were diagnosed incidentally. All had moderate to severe anemia (mean hemoglobin [Hb]: 6.8 ± 1.2 g/dL). Eight required red cell transfusions (median: 3 [IQR, 2 to 8]). On high-performance liquid chromatography, median HbF, HbD, and HbS were 12.1% (IQR, 9 to 18.3), 39.7% (IQR, 35 to 42), and 38.5% (IQR, 29 to 43). Five patients received hydroxyurea (HDU), median dose: 20 mg/kg/d (IQR, 18 to 23) with median duration of 7 months (IQR; 6, 45). Increment in Hb and reduction in painful crisis was observed in response to HDU. CONCLUSIONS: HbSD-Punjab has a heterogeneous clinical presentation. Anemia and sickle crises are quite common. HDU may be considered for those presenting with severe phenotype.
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