Haematological Characterisation and Molecular Basis of Asian Indian Inversion Deletions Delta Beta Thalassemia: A Case Report

We found 5/18(27.β) δβ-thalassemia cases with co-inherited alpha 3.7 deletion and 3/18 (16β) cases with IVS 1-5(G-C) mutation. Patients showed features of thalassemia intermedia phenotype among which those with co-inherited IVS 1-5(G-C) mutation showed severe phenotype as compared to those with co-inherited alpha 3.7 deletion. So, we highlight importance of genotyping of patients with δβ thalassemia or HPFH and coinheritance with inherited factors which plays crucial role in clinicopathological profile and setting up prenatal diagnostic protocol.

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“…These findings confirmed the diagnosis of δβ thalassemia [17]. Our findings are comparable to the above-mentioned studies [16,17] .…”

Section: Discussionsupporting

confidence: 93%

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

et al. 2018

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“…Other differential diagnoses for markedly elevated Hb-F with lack of Hb-A are homozygous -thalassaemia and homozygous HPFH 1 . Homozygotes of HPFH are clinically normal 1,5,6 . Homozygous -thalassaemia patients are generally in a compensated hemolytic process.…”

Section: Discussionmentioning

confidence: 99%

Diagnosing delta-beta thalassaemia in a resource poor setting

Warushahennadi,

Premini,

Roshanth

et al. 2024

sljo-j-tsljh

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An eight-year-old girl presented with mild scleral icterus, pallor and hepatosplenomegaly. Her preliminary investigations revealed low haemo-globin (Hb) (94g/L), high reticulocyte count (3.5%), normal total bilirubin level and normal liver function tests. Her blood picture revealed evidence of chronic haemolysis. High perfor-mance liquid chromatography (HPLC) revealed markedly raised Hb-F (98.3%). Capillary electro-phoresis revealed Hb-F of 99.2%. Acid elution test (Kleihauer test) showed pan-cellular distribution of Hb-F. Her parents were first cousins. Her mother’s profile showed thalassaemic red cell indices with normal Hb-A2 and high Hb-F (13.3%). The father was not available for screening. The paternal grandmother’s HPLC showed normal Hb-A2 and high Hb-F (6.8%). Based on clinical and laboratory findings and family screening results, the child was diagnosed as homozygous delta-beta (αβ)-thalassaemia presenting as thalassaemia intermedia.

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“…δβ-thalassaemia caused by the elimination of both δ and β genes but with preservation of the γ genes. Homozygotes δβ-thalassaemia cannot synthesise HbA 2 or HbA as they have no δ and β genes but comprises 100% of HbF concentration (Khunger et al, 2014). δβ-thalassaemia such as Siriraj J Gγ(Aγδβ) o -thalassaemia (~118 kb deletion), Thai (δβ) o -thalassaemia (~12.5 kb deletion), HPFH-6 and Hb Lepore have been commonly associated with individuals with high HbF (> 1.0%), but having a low to normal value of HbA 2 (≤ 3.2%) (Tritipsombut et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia

Ghani

Saleh

Rahman

et al. 2021

APJMBB

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Mutations in the β-globin gene cluster can lead to β-thalassaemia, δβ-thalassaemia, hereditary persistence of foetal haemoglobin (HPFH) and some of the haemoglobin variants. The clinical and haematological spectrum of thalassaemia range from benign to pathogenic conditions including severe transfusion dependent thalassaemia. Therefore, it is important to accurately diagnose β-globin gene cluster mutations to prevent thalassaemia major or intermedia offspring. The objective of this study is to detect β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia. This study involved 144 anaemic patients with HbF level >1.0%. High-Performance Liquid Chromatography (HPLC) was used to determine the HbF and HbA2 levels. Multiplex-ARMS (ARMS)-PCR and gap-PCR were performed for those patients with high HbA2 level (>3.2%) and normal HbA2 level (≤3.2%) to detect β-globin gene cluster mutations and large deletions respectively. The majority of patients were Malays (99.3%) with mean age of 19.99 ± 1.64 years and female 61.1% predominance. Out of 87 samples tested using multiplex ARMS-PCR against eight targeted single mutation; Cd 41/42, IVS 1–5, Cd 26, Cd 17, Cd 71/72, IVS 1–1, Cd 8/9 and -28 mutations, 65 (74.7%) patients were detected which comprises of Cd 26 (56.3%), Cd 41/42 (11.5%), compound Cd 26 and Cd 41/42 (3.4%) and IVS 1–1 (3.4%). Meanwhile, for multiplex gap-PCR which detect four types of large deletions; Thai (δβ)o-thalassaemia, HPFH-6, Siriraj J and Hb Lepore, one out of 57 patients (1.8%) was found positive with Thai (δβ)o-thalassaemia. There was a significant difference between the mean of HbF level, MCV level as well as MCH level of patients with and without β-globin gene mutations and large deletions (P<0.05). This study highlighted the presence of various types of β-globin gene cluster mutations detection in establishing a definitive diagnosis among this selected group of patients for the large-scale screening of the thalassaemia gene.

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Haematological Characterisation and Molecular Basis of Asian Indian Inversion Deletions Delta Beta Thalassemia: A Case Report

Cited by 7 publications

References 5 publications

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal hemoglobin: a study from India

Diagnosing delta-beta thalassaemia in a resource poor setting

β-globin gene cluster mutations and large deletions among anaemic patients with elevated HbF level in a tertiary teaching hospital in Kelantan, Malaysia

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