Haemoglobin D Iran With Beta Thalassemia in A Primigravida With Anaemia
Abstract
Anaemia is quite common in female population of developing countries including Pakistan. Beside haemoglobinopathies are often seen in India, Pakistan and Iran 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. Although, Haemoglobin D-Punjab is commonly seen but another variant of HB D like Hb D Iran with heterozygous trait of β thalassemia is rarely reported. We present a rare case of co-inheritance of Haemoglobin D- Iran and β thalassemia in a young primigravida of Kashmiri origin in her twenties. She was six months pregnant and was diagnosed to have anaemia. She had history of diarrhea. On examination, she was pale looking and mildly icteric. Systemic examination was insignificant except for mild splenomegaly. The fundal height was normal for age to date. On investigation, she had mild anaemia with microcytic hypochromic blood picture. Hemoglobin electrophoresis showed a band of Hb A2+Hb F+S/D. Molecular studies of combined Haemoglobin D –Iran and beta thalassemia. She was counseled about his disease and advised follow-up up at 6 months after delivery after delivery.
Keywords: Anaemia; Haemoglobinopathy; Primigravida; Thalassemia
Introduction
Hemoglobin D (Hb D), is a variant of hemoglobin that occurs mainly in north-west India, Pakistan and Iran [1]. The replacement of glutamic acid with glutamine in normal Hemoglobin A at 121 position on its beta chain leads to a new structurally different variant of haemoglobin called Hb D [2]. Hb D is clinically silent in its heterozygous state, but coinheritance of Hb D with either Hb S or thalassemia produces clinically significant conditions like sickle cell anemia and chronic hemolytic anemia of moderate severity [3].
The Hb D Iran trait and homozygous cases have been already reported in the literature [4,5]. However, few studies have reported compound heterozygotes of Hb D Iran with other Hb variants [6]. We report a rare case of compound heterozygous condition of Hb-D β thalassemia trait in a Kashmiri family living in Azad Kashmir, Pakistan.
Case Report
A young six-month prime gravida of Kashmiri origin from Muzaffarabad, Azad Kashmir Pakistan in her twenties presented with chronic diarrhea with history of chronic anemia. She was nonsmoker, nonalcoholic. There was no past history of parasitic infestation, blood loss, weight loss, tuberculosis, any other disease. She was treated by various GPs with oral hematinics without much improvement of her symptoms & correction of anaemia. She was believed to have diarrhea due to iron therapy and was lately administered parenteral iron therapy. However, her Hb remained 9gm/dl and did not improve. On examination, she was conscious and oriented in time place and person. Her BP was100/70mm Hg and pulse rate of 80 beats per minute. She was fair colored with mild jaundice. There was no cyanosis, clubbing, koilonychia, lymphadenopathy or edema. Systemic examination was normal except for mild splenomegaly. Ultrasound abdomen showed 24 weeks fetus, normal sized liver and an enlarged spleen of 5cms in size. Her stool examination revealed cysts of Entamoeba histolytica. She was treated with tablet metronidazole 800mg tid for 10 days. Her diarrheal symptoms disappeared and follow up stool examination was normal. Retrospectively, her family history revealed consanguine marriage of her parents. Complete blood picture showed Hb of 8.8g/dl, WBC count of 13.5 X 103/ul with 68% polymorphs. RBC count was 5.16x 106/ul. MCV was 60.8 fL, MCH 17.1pg and HCT 31.4%. Platelets were 232x103/ul. Peripheral blood film showed microcytic hypochromic blood picture with moderate anisopiokilocytosis and a few target cells. Reticulocyte count was 5.5%. Hemoglobin electrophoresis was advised to rule out haemoglobinopathy. It showed a band of Hb A2 plus Hb F plus Hb S/ D. Hb F was 0.8% and H A2 3.1%. Sickling test was negative. PCR for thalassemia showed a mutation in Fr 8-9(+G) and another Hb D (Iran). A diagnosis of combined haemoglobin D –Iran and β thalassemia were made. Urine examination was normal. The diagnosis was conveyed to the patient. No intervention was needed, however, she was counselled regarding the condition and advised to follow up at 6 months after delivery for blood screening for haemoglobinopathy.
Discussion
Hemoglobinopathies are one of the common blood disorders seen in Pakistani population. Mutations in the globin genes can cause either a quantitative reduction in output from that gene or alter the amino acid sequence of the protein produced. Quantitative defects cause thalassemia, whereas qualitative changes are referred to as Hb variants. These hereditary disorders of Hb pose a massive health problem in many third world countries including India, Pakistan, and Iran [7].
In a retrospective study conducted at National Institute of Blood Disease & Bone Marrow Transplantation, Karachi, Pakistan, a total of 2739 patients blood samples were analyzed from 2010-2014. The overall frequency of hemoglobinopathies was 34.2%, among which beta Thalassemia minor was 51.8% and Hb D trait was 6.7% and Beta Thalassemia major was 24.1%.7 Nearly similar findings were observed in other studies conducted by in Pakistan [8,9].
Thalassemias are inheritable common genetic disorder worldwide due to alteration in haemoglobin (Hb) production. About 4.83% of world’s populations carries of globin chain variants including 1.67% of the population which is heterozygous for α-thalassemia and β-thalassemia [7].
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