A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.

The homozygous SLC46A1 (c.1127G>A) variant is lethal, whereas a heterozygous state with SLC46A1 (c.1127G>A) and HBB (c.92+5G>C) may not be associated with complications like transfusion-dependent thalassemia.

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Journal
PubMed
Published
2025-12-01
Primary Topic
Folate and B Vitamins Research
Type
article
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article

A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.

Dolat Singh Shekhawat, Siyaram Didel, Abhishek Purohit, Kuldeep Singh
PubMed
Folate and B Vitamins Research
article

A Rare Combination of Hereditary Folate Malabsorption (SLC46A1 Gene Variant) and Beta-Thalassemia Trait.

Dolat Singh Shekhawat, Siyaram Didel, Abhishek Purohit, Kuldeep Singh
article en

Abstract

The homozygous SLC46A1 (c.1127G>A) variant is lethal, whereas a heterozygous state with SLC46A1 (c.1127G>A) and HBB (c.92+5G>C) may not be associated with complications like transfusion-dependent thalassemia.

PubMedVol. 36(4)
All India Institute of Medical Sciences Jodhpur (IN)
Good health and well-being
Openalex Percentile: Top 27%
Folate and B Vitamins Research
OpenAlex
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