What question did this study set out to answer?

Identify the spectrum of alpha- and beta-thalassemia gene variants among premarital screening candidates with persistent microcytic hypochromic anemia in Eastern Iran.

September 18, 2026BMC Medical GenomicsOpen Access

Spectrum of α- and β-thalassemia variants in individuals with persistent microcytic hypochromia in Eastern Iran: implications for population genetic screening

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Authors

HRHamid Malek RaesiBirjand University of Medical Sciences SNSaeed NasseriBirjand University of Medical Sciences FVFarzane VafaeieBirjand University of Medical Sciences

Discussion

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Implication

Cross-sectional study uncovers predominant globin gene mutations in premarital individuals with persistent anemia, highlighting the value of targeted population genetic screening.

Key Points

Identify the spectrum of alpha- and beta-thalassemia gene variants among premarital screening candidates with persistent microcytic hypochromic anemia in Eastern Iran.
Screened 7,440 premarital candidates at Birjand Health Center in Iran for microcytic hypochromia using red blood cell indices, providing iron therapy to those diagnosed with iron deficiency anemia.
Evaluated 474 individuals (6.4%) with persistent anemia and iron therapy resistance using ARMS-PCR and GAP-PCR to detect alpha- and beta-globin gene variants based on HbA2 levels.
Identified –α³·⁷ (34.3%) and HBA2 c.-2 A > G (16.2%) as the most frequent alpha-globin variants, alongside codon 19 (3.8%) and –α⁴·² (3.5%).
Found HBB c.92 + 5G > C (43.3%) to be the predominant beta-globin mutation, followed by codon 44 (− C) (13.3%), codon 5 (− CT) (11.7%), codon 16 (A > T) (10%), and frameshift codons 8/9 (+ G) (10%).

Cite This Study

Raesi et al. (2026) studied this question.

synapsesocial.com/papers/6aad0bb6de0393d728b8a127 https://doi.org/10.1186/s12920-026-02476-6

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September 18, 2026BMC Medical GenomicsOpen Access

Spectrum of α- and β-thalassemia variants in individuals with persistent microcytic hypochromia in Eastern Iran: implications for population genetic screening

View Full Paper

Ask AI

Bookmark

Authors

HRHamid Malek RaesiBirjand University of Medical Sciences SNSaeed NasseriBirjand University of Medical Sciences FVFarzane VafaeieBirjand University of Medical Sciences

Discussion

Member takes

Implication

Cross-sectional study uncovers predominant globin gene mutations in premarital individuals with persistent anemia, highlighting the value of targeted population genetic screening.

Key Points

Identify the spectrum of alpha- and beta-thalassemia gene variants among premarital screening candidates with persistent microcytic hypochromic anemia in Eastern Iran.
Screened 7,440 premarital candidates at Birjand Health Center in Iran for microcytic hypochromia using red blood cell indices, providing iron therapy to those diagnosed with iron deficiency anemia.
Evaluated 474 individuals (6.4%) with persistent anemia and iron therapy resistance using ARMS-PCR and GAP-PCR to detect alpha- and beta-globin gene variants based on HbA2 levels.
Identified –α³·⁷ (34.3%) and HBA2 c.-2 A > G (16.2%) as the most frequent alpha-globin variants, alongside codon 19 (3.8%) and –α⁴·² (3.5%).
Found HBB c.92 + 5G > C (43.3%) to be the predominant beta-globin mutation, followed by codon 44 (− C) (13.3%), codon 5 (− CT) (11.7%), codon 16 (A > T) (10%), and frameshift codons 8/9 (+ G) (10%).

Cite This Study

Raesi et al. (2026) studied this question.

synapsesocial.com/papers/6aad0bb6de0393d728b8a127 https://doi.org/10.1186/s12920-026-02476-6

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