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HFE and thalassemia are reported together in 2 articles.
Gene
HFE
- HGNC
- HGNC:4886
15articles
15mentions
6variants with confirmed gene link
Most co-reported phenotypes (articles)
Reported variants (articles · ClinVar status)
Phenotype
Thalassemia
- HPO
- HP:0001878
409articles
409mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.
PMID 31522215 | PMCID PMC6790492 | DOI 10.15537/smj.2019.9.24482 · Saudi medical journal · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HFE | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Association of frequency of hereditary hemochromatosis (HFE) gene mutations (H63D and C282Y) with iron overload in beta-thalassemia major patients in Pakistan.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | p.H63D | “The p.H63D mutation was observed in 23 (11.3%) cases, out of which 19 cases were heterozygous for p.H63D and 4 cases were homozygous.” | 0.95 | hgvs_regex_v1 |
| variant | p.C282Y | “In the case of p.C282Y, neither homozygous nor heterozygous mutation was found in patients or in controls.” | 0.95 | hgvs_regex_v1 |
Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major.
PMID 31707418 | PMCID PMC6901760 | DOI 10.15537/smj.2019.11.24579 · Saudi medical journal · 2019 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | HFE | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.98 | hgnc_dict_v1 |
| phenotype | thalassemia | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | H63D | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.82 | literature_variant_regex_v2 |
| variant | C282Y | “Comment on: Hemochromatosis (HFE) gene mutations (H63D and C282Y) and iron overload in beta-thalassemia major. [No Abstract Available].” | 0.82 | literature_variant_regex_v2 |