Impact of iron deficiency on hemoglobin A2% in obligate β‐thalassemia heterozygotes

Sharma, Praveen; Das, Reena; Trehan, Amita; Bansal, Deepak; Chhabra, Sanjeev; Kaur, Jasbir; Marwaha, Ram Kumar; Varma, Neelam; Garewal, G.

doi:10.1111/ijlh.12246

Cited by 25 publications

(15 citation statements)

References 15 publications

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“…These results show that, while HbA 2 tended to be lower in iron deficiency, it was not less than the cut‐off value of 3.5% used for detecting β‐thalassemia carriers. These observations were confirmed by a recent study with a larger cohort of patients in India . Neither study was focused on protracted and severe iron deficiency, and this will require further investigation.…”

Section: Iron Deficiency and Hba2 Levelssupporting

confidence: 56%

Diverse hematological phenotypes of β‐thalassemia carriers

Luo

Chui

2016

Annals of the New York Academy of Sciences

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Most β-thalassemia carriers have mild anemia, low mean corpuscular volume and mean corpuscular hemoglobin, and elevated hemoglobin α2 (HbA2 ). However, there is considerable variability resulting from coinheritance with α- and/or δ-globin gene mutations, dominant inheritance of β-thalassemia mutations, highly unstable variant globin chains, large deletions removing part or all of the β-globin gene cluster, loss of heterozygosity of the β-globin gene cluster during development, or concomitant erythroid enzyme or membrane protein abnormalities. Recognition of the specific abnormality and correct diagnosis can allay anxiety and unnecessary investigation, help formulate treatment programs, and deliver appropriate genetic and family counseling.

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Section: Iron Deficiency and Hba2 Levelssupporting

confidence: 56%

Diverse hematological phenotypes of β‐thalassemia carriers

Luo

Chui

2016

Annals of the New York Academy of Sciences

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“…Contradictory reports are available in literature showing variable findings of hemoglobin A 2 in individuals with iron deficiency anemia concomitant with β thalassemia trait. A study, conducted in India, reported that iron deficiency concomitant with β thalassemia trait was very unlikely to significantly affect the levels of hemoglobin A 2 in severe iron deficient females with concomitant β thalassemia trait 17. A study by Usman et al has shown that individuals with β thalassemia trait coexistent with iron deficiency anemia had normal hemoglobin A 2 levels that were confirmed by molecular analysis 18.…”

Section: Discussionmentioning

confidence: 96%

Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

Hamali

Saboor

2019

Pak J Med Sci

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Objectives:To evaluate the prevalence of undiagnosed hemoglobinopathies among individuals visiting the premarital screening Centre.Methods:This study was conducted at Premarital Screening Centre, King Fahad Central Hospital and Research Centre, Jazan, between January 2018 and October 2018. A total of 3,970 (male n =1,859 and female n = 2,111) individuals were included in the study. Data of complete blood count, hemoglobin electrophoresis and sickling tests of all individuals recruited in the study were obtained and statistically analyzed.Results:One thousand three hundred and twelve individuals had abnormal complete blood counts or hemoglobin electrophoresis results, that include sickle cell trait (13.5%), sickle cell disease (0.7%), β thalassemia with sickle cell trait (2.46%), β thalassemia trait (1.51%), β thalassemia major (0.075%), suspected α thalassemia or other hemoglobinopathies (4.43%), hemoglobin H (0.3%), hemoglobin E (0.075%), undiagnosed cases (0.91%) and iron deficient (7.23%).Conclusion:A high percentage of individuals are suspected for α thalassemia or other hemoglobinopathies that needs to be diagnosed. Further investigations shall be included in the premarital screening program to diagnose these inconclusive cases. Coexistence iron deficiency with thalassemia shall also be ruled out during premarital screening program.

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“…Study done in India among 752 samples found that 3.1% of them had borderline HbA2 values defined between 3.1-3.9% [10].…”

Section: Discussionmentioning

confidence: 96%

Red Cell Exchange Transfusion in Sickle Cell Anaemia Patients at the University College Hospital, Ibadan, Nigeria

Akingbola¹,

Fasola²,

AS³

et al. 2018

J Blood Disord Transfus

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Level of HbA2 more than 4% is the reliable parameter to identify β-thalassemia carrier. However, in some cases the level is not typically increased hence leading to diagnostic dilemma. Thus the objectives of this study were to evaluate the existence of β-thalassemia among borderline HbA2 sample. Out of 11,790 samples received for thalassemia screening, 405 (3.4%) were found to have borderline HbA2 level. Out of this, 117(28.9%) samples were selected by simple random sampling for PCR. Multiplex ARMS-PCR was used to detect β-globin gene mutation and multiplex gap PCR for α-globin genes deletion. The result revealed 36 (30.8%) had β-globin gene mutations, 8 (6.8%) had α-globin gene deletions and 1 (0.9%) had coexistence of α and β-globin gene defects.The commonest gene mutation detected were CD 19 (A-G), detected from 17 (45.9%) samples, followed by 9 (24.3%) with IVS 1-1 (G-A) mutation, 5 (13.5%) with Poly A mutation and 1 (2.7%) showed CAP +1 (A-C) mutation. Two samples (5.4%) showed mutations of Poly A and CD19, 2 (5.4%) showed mutation of IVS 1-1 and CD 19 while 1 (2.7%) showed IVS 1-5 and CD 19 mutations. This study showed 10 (27.0%) positive molecular results even though the HbA2 level was at only 3.0%. There was significant number of people with HbA2 between 3.0% and 3.9% and confirmed as thalassemia carriers by PCR. This data may suggest the level of HbA2 need to be revised to ensure the success of thalassemia screening programme in our population.

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Impact of iron deficiency on hemoglobin A2% in obligate β‐thalassemia heterozygotes

Abstract: Iron deficiency was prevalent among north Indian βTT individuals, especially women. After adjusting for other causes of low HbA2 in βTT, iron deficiency, even when very severe, was very unlikely to interfere significantly with HbA2-based identification of βTT.

Cited by 25 publications

References 15 publications

Diverse hematological phenotypes of β‐thalassemia carriers

Diverse hematological phenotypes of β‐thalassemia carriers

Undiagnosed Hemoglobinopathies: A potential threat to the premarital screening program

Red Cell Exchange Transfusion in Sickle Cell Anaemia Patients at the University College Hospital, Ibadan, Nigeria

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