Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant
Published: June 1, 2017 | DOI: https://doi.org/10.7860/JCDR/2017/27816.10114
Kalyan Mansukhbhai Shekhda, Alpa C Leuva, Jyoti G Mannari, Aashka Vikas Ponda, Amee Amin
1. Assistant Professor, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.
2. Professor, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.
3. Professor and Head, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.
4. Postgraduate Trainee, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.
5. Intern, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.
Correspondence
Dr. Kalyan Mansukhbhai Shekhda,
218, New Shakti Vijay Soc., opposite Surat Supar Store, Hirabaug, Varachha Road-395006, Surat, Gujarat, India.
E-mail: kalokly@gmail.com
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. Here, we 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.
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