Subarna Chakravorty

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BACKGROUND AND OBJECTIVES We investigated outcomes in a UK neonatal cohort as a benchmark for care of children with sickle cell disease (SCD). DESIGN AND METHODS Two-hundred and fifty-two children (180 with hemoglobin [Hb] SS, 64 with HbSC, and 8 with HbS/beta thalassemia), identified during 1983-2005 by universal birth screening in East London, were(More)
Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and chronic organ damage and by a significant reduction in life expectancy. The origin of SCD lies in the malarial regions of the tropics where carriers are protected against death from(More)
Although neonatal thrombocytopenia (platelet count < 150×10(9) /l) is a common finding in hospital practice, a careful clinical history and examination of the blood film is often sufficient to establish the diagnosis and guide management without the need for further investigations. In preterm neonates, early-onset thrombocytopenia (<72h) is usually(More)
Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient also carried a potentially contributing heterozygous RAB27A mutation,(More)
Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation, absent platelet dense granule secretion, neutropenia and reduced(More)
Background: This is the first documented case of a patient with hemophagocytic lymphohistiocytosis in association with coeliac disease. There was complete clinical and biochemical remission of hemophagocytic lymphohistiocytosis following the introduction of a gluten-free diet. Case presentation: A 7-year-old white girl presented with fevers and(More)
A 12-year-old Iranian boy was referred because of anemia that was refractory to iron therapy despite a low serum iron. His parents were first cousins and he was known to have b thalassemia heterozygosity. He was on the 9th centile for height and weight. His blood count showed a hemoglobin concentration of 88 g/L with an MCV of 56.8 fL, MCH 17.6 pg, MCHC 309(More)