Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

Nambiyar, Kaniyappan; Kumar, Vijay; Marwah, Sheeba; Nigam, A S

doi:10.21276/apalm.1352

Cited by 2 publications

(3 citation statements)

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“…In another study; as part of the antenatal screening program for thalassemias and haemoglobinopathies, 5.8% of pregnant women were found with the β-thalassemia trait and 0.8% with the Hb E trait [10] . In another study, 10 (0.16%) patients were diagnosed as Hb E-β thalassemias [4] . Patient showing a peak at the HbA2/E position with increased HbA2 level (>15%) and increased Hb F level (5 -87%) was labelled as a double heterozygous state of Hb E and β-thalassemia [1] .…”

Section: Discussionmentioning

confidence: 94%

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Double heterozygous for hemoglobin E and Beta thalassemia: A case study

Goswami¹,

Gidwani²,

Shah³

et al. 2020

Int. J. Clin. Diagn. Pathol.

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Haemoglobinopathies and thalassemias are inherited conditions, being diagnosed with increasing prevalence in India. An accurate diagnosis of β-thalassemia carriers, homozygous patients, double heterozygous patients and identification of different structural hemoglobin variants is important for epidemiological studies as well as for management and prevention of the major hemoglobin disorders. The phenotypic variability of Hb E/β-thalassaemia and the paucity of long-term clinical data, present challenges in providing definitive diagnosis and management of such patients. This case was clinically labelled as Thalassaemia intermedia and was confirmed as Double heterozygous for HbE and Thalassaemia. Family study was also done.

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Section: Discussionmentioning

confidence: 94%

“…The coinheritance of two different haemoglobinopathies is a rare occurrence [4] . These disorders, which were mainly confined to certain areas, religions, castes and tribes particularly with endogamous norms of marriages, are now widely prevalent all over the world.…”

Section: Discussionmentioning

confidence: 99%

Double heterozygous for hemoglobin E and Beta thalassemia: A case study

Goswami¹,

Gidwani²,

Shah³

et al. 2020

Int. J. Clin. Diagn. Pathol.

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“…[6] A study by Baruah MK et al and Mohanty D et al reported a prevalence of 2.14% and 0.19% respectively. [7,8] A study conducted previously in our institute showed a prevalence of 0.16% [9] Diagnosis of HbE can be made through various modalities. HbE inheritance may present as homozygous (EE), heterozygous (AE) or compound heterozygous (in association with sickle cell anemia, β-thalassaemia and other disorders).…”

Section: Discussionmentioning

confidence: 98%

A Rare Case Presentation of HbE/ β Thalassemia

Singh

Kumar

Singh

et al. 2020

Ann of Pathol and Lab Med

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HbE/β thalassemia (HbE/β thal) genotype accounts for approximately one half of severe β thalassemia cases worldwide. The disorder shows marked clinical variability ranging from mild asymptomatic anemia to life threatening disease. Here, we report a case of a 2-year-old boy from Bihar presenting with severe haemolytic jaundice. Complete haematological profile and Haemoglobin High Performance Liquid Chromatography (Hb HPLC) using Biorad version was done of the patient along with the family was done to arrive at the diagnosis of this rare hemoglobinopathy.

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Analysis of double heterozygous haemoglobinopathies from a tertiary care center in North India

Cited by 2 publications

References 3 publications

Double heterozygous for hemoglobin E and Beta thalassemia: A case study

Double heterozygous for hemoglobin E and Beta thalassemia: A case study

A Rare Case Presentation of HbE/ β Thalassemia

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