Powered by OpenAIRE graph
Found an issue? Give us feedback
ZENODOarrow_drop_down
ZENODO
Article . 2026
License: CC BY
Data sources: Datacite
ZENODO
Article . 2026
License: CC BY
Data sources: Datacite
versions View all 2 versions
addClaim

Β-THALASSEMIA GENE MUTATIONS WITH NORMAL HEMATOLOGICAL INDICES & NORMAL HEMOGLOBIN PATTERN IN JORDAN; IMPLICATIONS FOR SCREENING PROGRAMS: A SYSTEMATIC REVIEW AND META-ANALYSIS

Authors: 1*Ruba Abed, MD; 1Amr Zahrawi, MSc, 2Asem Momani, MD;

Β-THALASSEMIA GENE MUTATIONS WITH NORMAL HEMATOLOGICAL INDICES & NORMAL HEMOGLOBIN PATTERN IN JORDAN; IMPLICATIONS FOR SCREENING PROGRAMS: A SYSTEMATIC REVIEW AND META-ANALYSIS

Abstract

Background: β-Thalassemia is prevalent in Jordan and the broader Eastern Mediterranean region. Routine carrier screening relies on red blood cell indices and hemoglobin pattern Analysis ; however, silent or mild β-thalassemia mutations can present with normal hematological parameters and HbA₂ levels, leading to under-detection. Objective: This systematic review and meta-analysis aimed to identify β-thalassemia mutations associated with normal hematological indices and normal hemoglobin patterns in Jordan and comparable populations, and to assess implications for national screening programs. Methods: We performed a comprehensive literature search in PubMed, PMC, and regional databases up to January 2026. Studies were included if they reported molecularly confirmed β-thalassemia carriers with normal mean corpuscular volume (MCV ≥80 fL), mean corpuscular hemoglobin (MCH ≥27 pg), and normal or borderline HbA₂. Data was extracted on mutation type, prevalence, hematological parameters, and screening outcomes. Due to heterogeneity, qualitative synthesis and random-effects meta-analysis were applied. Results: Evidence indicates that a substantial proportion of β-thalassemia carriers exhibit normal red cell indices and HbA₂ levels, evading conventional phenotypic screening (Weatherall & Clegg, 2001; Galanello & Origa, 2010). In Jordan, common silent or mild variants include IVS-I-6 (T>C), IVS-I-110 (G>A), IVS-II-745 (C>G), and promoter-region variants −101 (C>T) and −87 (C>G). Globally, additional silent alleles such as −92 (C>T) and CAP +1 (A>C) contribute to under-detection (Giambona et al., 2009; Old, 2003). These findings highlight the limitations of screening based solely on hematological indices and electrophoresis. Conclusions: Routine phenotype-based screening in Jordan may fail to identify silent β-thalassemia carriers. Integrating molecular diagnostics into screening programs can improve carrier detection, enable informed counseling, and strengthen preventive strategies.

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    0
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
Average
Average
Average
Upload OA version
Are you the author of this publication? Upload your Open Access version to Zenodo!
It’s fast and easy, just two clicks!