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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



  Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant

Haemoglobin D-Punjab is one of the most common subvariants (55%) of haemoglobin D, which can be inherited as a homozygous or a heterozygous trait with other haemoglobinopathies. In Jun 11, 2017, Kalyan Mansukhbhai Shekhda and others published an article in << Journal of Clinical & Diagnostic Research>> which title is “Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant”, reported a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin. On examination, he was pale and icteric with splenomegaly and Grade I hemorrhoids on systemic examination. On investigation, there was severe anaemia, pancytopenia (mixed picture on smear), vitamin B12 deficiency and raised Lactate Dehydrogenase (LDH).

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