FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 2

General Information (adopted from Orphanet):

Synonyms, Signs: HBFQTL2
Number of Symptoms 3
OrphanetNr:
OMIM Id: 142470
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(OMIM) Heterocellular persistence of fetal hemoglobin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fetal hemoglobin (HbF) levels vary considerably in healthy normal adults. The distribution of HbF and F cells, erythrocytes that contain measurable HbF, in healthy adults is continuous, although most adults have HbF of less than 0.6% of total ...
Clinical Description OMIM Thein et al. (1994) reported a large family from the state of Gujarat in India in which members had beta-thalassemia and/or hereditary persistence of fetal hemoglobin. The presence of HbF-containing cells segregated as an independent trait from the ...
Molecular genetics OMIM Pandit et al. (2008) provided evidence suggesting that a 32C-T SNP in the 5-prime untranslated region of the HBS1L gene (dbSNP rs2297339) may influence HbF. The C allele was associated with increased HbF levels among Thai-Chinese patients with ...