Browsing by Author "Jaiswal, RM."
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Item S-Beta Thalassemia leading to avascular necrosis of left hip joint in a young male – A rare case report(Educational Society for Excellence, 2016) Saxena, S; Saxena, N; Jaiswal, RM.Sickle beta thalassemia is a disorder which represents the double heterozygous state for the Hb-S and the beta-thalassemia genes. The clinical and hematological manifestations of sickle beta thalassemia are highly variable due to existence of two types of genes, beta0 thalassemia gene and beta+ gene. Beta0 gene leads to complete absence of Hb-A levels, whereas beta+ gene leads to production of Hb-A levels 10-30%. This disorder is diagnosed by levels of HbS, HbA2 and HbF in Hemoglobin Electrophoresis. We are presenting one such young male patient with features of Sickle Beta+ thalassemia who presented with anemia, fatigue and joint pain with characteristic features of avascular necrosis of left hip joint in X-Ray and MRI. For the etiological diagnosis further investigation in the form of capillary haemoglobin electrophoresis and for final confirmation genetic analysis by PCR is done.