Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant
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 haemoglob...
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JCDR Research and Publications Private Limited
2017-06-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/10114/27816_CE(EK)_F(RK)_PF1(PG_RK)_PFA(P_PG).pdf |
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| author | Kalyan Mansukhbhai Shekhda Alpa C Leuva Jyoti G Mannari Aashka Vikas Ponda Amee Amin |
| author_facet | Kalyan Mansukhbhai Shekhda Alpa C Leuva Jyoti G Mannari Aashka Vikas Ponda Amee Amin |
| author_sort | Kalyan Mansukhbhai Shekhda |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-22T01:00:47Z |
| format | Article |
| id | doaj.art-7becfbb914054f14b88d0d7d637837b7 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-22T01:00:47Z |
| publishDate | 2017-06-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-7becfbb914054f14b88d0d7d637837b72022-12-21T18:44:12ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-06-01116OD21OD2210.7860/JCDR/2017/27816.10114Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare VariantKalyan Mansukhbhai Shekhda0Alpa C Leuva1Jyoti G Mannari2Aashka Vikas Ponda3Amee Amin4Assistant Professor, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.Professor, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.Professor and Head, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.Postgraduate Trainee, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.Intern, Department of Medicine, Pramukhswami Medical College and Research Institute, Karamsad, Gujarat, India.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.https://jcdr.net/articles/PDF/10114/27816_CE(EK)_F(RK)_PF1(PG_RK)_PFA(P_PG).pdfanaemiahaemoglobinopathieslactate dehydrogenasesplenomegaly |
| spellingShingle | Kalyan Mansukhbhai Shekhda Alpa C Leuva Jyoti G Mannari Aashka Vikas Ponda Amee Amin Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant Journal of Clinical and Diagnostic Research anaemia haemoglobinopathies lactate dehydrogenase splenomegaly |
| title | Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant |
| title_full | Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant |
| title_fullStr | Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant |
| title_full_unstemmed | Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant |
| title_short | Co-Inheritance of Haemoglobin D-Punjab and Beta Thalassemia - A Rare Variant |
| title_sort | co inheritance of haemoglobin d punjab and beta thalassemia a rare variant |
| topic | anaemia haemoglobinopathies lactate dehydrogenase splenomegaly |
| url | https://jcdr.net/articles/PDF/10114/27816_CE(EK)_F(RK)_PF1(PG_RK)_PFA(P_PG).pdf |
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