Interaction of Hemoglobin E with Other Abnormal Hemoglobins

Edison, Eunice Sindhuvi; Shaji, R. V.; Chandy, Mammen; Srivastava, Alok

doi:10.1159/000329904

Cited by 11 publications

(3 citation statements)

References 10 publications

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“…However, Hb E mutation creates abnormal mRNA splicing, resulting in low output of Hb E. Thus, lower Hb E levels than Hb D-Punjab levels could be observed in the compound heterozygous Hb D-Punjab/Hb E cases. Moreover, co-inherited α + -thalassemia in compound heterozygous Hb D-Punjab/Hb E cases might not much affect the lower production of Hb E levels when compared to Hb E levels of compound heterozygous Hb D-Punjab/Hb E with normal α-globin chain cases in a previous report (24.5% and 29.0% vs 28.4% and 29.3%) 31 .…”

Section: Discussionmentioning

confidence: 63%

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Tepakhan,

Kanjanaopas,

Sreworadechpisal

et al. 2024

Sci Rep

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Data on hemoglobin (Hb) variants in southern Thailand are lacking. This study aimed to reassess the frequency of Hb variants and the clinical aspects of compound heterozygous Hb variant with other hemoglobinopathies. We enrolled 13,391 participants from ten provinces in southern Thailand during 2015–2022. Hb analysis was performed using capillary electrophoresis, and mutations in the HBA and HBB genes were identified using PCR or DNA sequencing. Hb variants were identified in 337 (2.5%) unrelated subjects. Nine β-chain variants, namely Hb Malay (76.9%), Hb C (10.1%), Hb D-Punjab (2.9%), Hb G-Makassar (2.3%), Hb Dhonburi (2.3%), Hb Tak (1.4%), Hb J-Bangkok (1.4%), Hb New York (0.3%), and Hb Hope (0.3%), and four α-chain variants—Hb G-Georgia (HBA1) (0.9%), Hb G-Georgia (HBA2) (0.3%), Hb Q-Thailand (0.6%), and Hb St. Luke’s-Thailand (0.3%)—were identified. The southern population exhibited a distinct spectrum of Hb variants compared to that observed in the populations from other areas. Several compound heterozygous genotypes were also identified. Combining Hb Malay with Hb E or high Hb F determinants did not require a blood transfusion. This study provides essential information for genetic counseling in thalassemia prevention and control programs in this region.

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Section: Discussionmentioning

confidence: 63%

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Tepakhan,

Kanjanaopas,

Sreworadechpisal

et al. 2024

Sci Rep

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“…The benign phenotype of Hb D-Punjab/E double heterozygotes has been reported in at least six healthy individuals [42]- [44]. They had either a normal or a slightly decreased hemoglobin with Hb D fraction always higher than that of Hb E.…”

Section: E Hb D-punjab/e Double Heterozygotementioning

confidence: 95%

Hemoglobin D-Punjab Homozygotes and Double Heterozygotes in Premarital Screening: Case Presentations and Minireview

Denic

Souid

2021

EJMED

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Hemoglobin D-Punjab is the most common variant of hemoglobin D. In premarital screening, molecular testing is often unavailable, and diagnosis (and marriage guidance) often relies on the hemoglobin analysis, family studies and epidemiological facts. The use of latter methods sometimes results in hemoglobin D-Punjab/β-thalassemia double heterozygote being mistaken for its homozygote, which could be costly. We present the clinical and laboratory characteristics of hemoglobin D-Punjab phenotypes/genotypes in 15 individuals and review similar reports in the literature. We find that the quantity of hemoglobin D-Punjab in homozygotes is higher than in hemoglobin D-Punjab/β-thalassemia double heterozygotes, its fraction > 92% being consistent with homozygosis. The limitations of this diagnostic criterion are discussed, and clinical severity of this and other hemoglobin D-Punjab double heterozygotes reviewed.

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“…These cases had low HbA levels(3-5%) 28 . With migration for work and some intermixing over the years, co-inheritance of HbS with HbD Punjab, HbE and HbC has also been occasionally reported 29 30 31 .…”

Section: Co-inheritance Of Sickle Gene With Other Hb Defectsmentioning

confidence: 99%

Sickle cell disease in tribal populations in India

Colah

Mukherjee

Martin

et al. 2015

Indian Journal of Medical Research

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The sickle gene is widespread among many tribal population groups in India with prevalence of heterozygotes varying from 1-40 per cent. Co-inheritance of the sickle gene with β-thalassaemia, HbD Punjab and glucose-6-phosphate dehydrogenase (G6PD) deficiency has also been reported. Most of the screening programmes in India now use high performance liquid chromatography (HPLC) analysis although the solubility test is also sensitive and cheap. Sickle cell disease (SCD) among tribal populations is generally milder than among non-tribal groups with fewer episodes of painful crises, infections, acute chest syndrome and need for hospitalization. This has partly been attributed to the very high prevalence of α-thalassaemia among these tribes as well as higher foetal haemoglobin levels. However, the clinical presentation is variable with many cases having a severe presentation. There is not much information available on maternal and perinatal outcome in tribal women with sickle cell disease. Newborn screening programmes for SCD have recently been initiated in Maharashtra, Gujarat, Odisha and Chattisgarh and monitoring these birth cohorts will help to understand the natural history of SCD in India. Prenatal diagnosis is acceptable by tribal families in India. The Indian Council of Medical Research and the National Rural Health Mission in different States are undertaking outreach programmes for better management and control of the disease.

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Interaction of Hemoglobin E with Other Abnormal Hemoglobins

Cited by 11 publications

References 10 publications

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand

Hemoglobin D-Punjab Homozygotes and Double Heterozygotes in Premarital Screening: Case Presentations and Minireview

Sickle cell disease in tribal populations in India

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