Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan

Hb D Punjab is the most prevalent hemoglobin variant in Sindh, Pakistan, followed by HbS and HbQ. Molecular analysis is essential for accurate diagnosis and identifying rare variants. Integrating HbD detection into screening programmes and genetic counselling can help prevent hemoglobinopathies. (S1 Abstract Graphic).

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Publication Details

Journal
PLoS ONE
Published
2025-05-15
DOI
https://doi.org/10.1371/journal.pone.0320354
Primary Topic
Hemoglobinopathies and Related Disorders
Type
article
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0.00
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article

Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan

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Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan

Ali Raza Rajput, Ali Muhammad Waryah, Ikram Din Ujjan, Feriha Fatima Khidri, Sunila Tashfeen, Hina Shaikh, Muhammad Arif Sadiq
article en

Abstract

Hb D Punjab is the most prevalent hemoglobin variant in Sindh, Pakistan, followed by HbS and HbQ. Molecular analysis is essential for accurate diagnosis and identifying rare variants. Integrating HbD detection into screening programmes and genetic counselling can help prevent hemoglobinopathies. (S1 Abstract Graphic).

PLoS ONEVol. 20(5)
Liaquat University of Medical & Health Sciences (PK), Pakistan Army (PK), Military Hospital (PK)
Good health and well-being
Openalex Percentile: Top 85%
Hemoglobinopathies and Related Disorders
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