Co-inheritance of Hb D-punjab and beta thalassemia: a rare v
Haemoglobinopathies are a frequent cause of anaemia in Northwestern India due to traditional practices of consanguineous marriages. 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.

Though, haemoglobin D-Punjab is commonly seen, a heterozygous trait with beta thalassemia is a very rare presentation. Published in the Journal of Clinical and Diagnostic Research, the authors present a rare case of co-inheritance of haemoglobin D-Punjab and beta thalassemia in a 19-year-old male of Indian origin.

He came with gradually progressive generalised weakness with easy fatigability for the past two months. No history of similar complaints in the past. 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). Haemoglobin electrophoresis showed co-inheritance of haemoglobin D-Punjab and beta thalassemia. After Pack Cell Volume (PCV) and B12 supplements, haemoglobin improved. He was counseled about his disease and advised regular follow-up.

Key takeaways:-
- With only a few case reports being available on co-inheritance of haemoglobin D haemoglobinopathies with alpha or beta mutations, a lack of clarity exists with regards to the presence and severity of clinical features.

- Further standardised studies using gold standard methods and detailed clinical assessments in Northwestern Indian population could provide a larger cohort for gaining a more accurate clinical picture of this co-inheritance.

- Haemoglobin D-Punjab and beta thalassemia trait co-inheritance being a rare entity and prevailing in north-western India should also be considered in patients of Gujarat presenting as chronic anaemia.

Read in detail here: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535424/
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