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

Abstract

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.

An Unusual Presentation of Vitamin B12 Deficiency Associated With Massive Splenomegaly, Hemolytic Anemia, and Pancytopenia: A Case Report

“…As a result, test results linked to haemolytic may be observed (as described above in our case). Furthermore, only a few case studies have linked vitamin B12 deficiency to various haemochromatosis, myelodysplastic syndromes, and leukaemia, all of which were ruled out [ 9 - 11 ].…”

Time to think beyond sickle cell screening and haemoglobin electrophoresis: a case report and review of literature of sickle cell D-Punjab falsely labelled as sickle cell SS from central India

“…3 Hb D-Punjab, uncommon structural hemoglobin variant mainly in few Asian individuals belonging to India, Pakistan, Iran, Iraq, and other parts of the world. 4,5 It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, North western Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing no clinical or hematological alterations, or in homozygosis, the rarest form of inheritance, a condition that is commonly not related to clinical symptomatology.…”

Association of hemoglobinosis D-Punjab and β-thalassemia in a Moroccan family

“…L'hétérozygotie composite D-Punjab/␤ 0 -thalassémie est exceptionnelle [3]. De rares cas familiaux sont rapportés, notamment en Inde [12][13][14], en Iran [15,16], en Arabie [11,[17][18][19], mais aussi en Thaïlande [3], en Europe [20][21][22][23] et en Amérique du Nord [24,25]. L'anémie hémolytique dans ces cas est en règle légère à modérée [3,13,25], ce qui est également le cas dans notre étude, mais elle reste plus sévère qu'en cas d'homozygotie D-Punjab [20].…”