FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 3

General Information (adopted from Orphanet):

Synonyms, Signs: F-CELL PRODUCTION, X-LINKED
HPFH, SWISS TYPE
HBFQTL3
HETEROCELLULAR HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, SWISS TYPE
FCPX
Number of Symptoms 6
OrphanetNr:
OMIM Id: 305435
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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
(OMIM) F reticulocyte levels 1 / 7739
3
(OMIM) F hemoglobin production in SS disease 1 / 7739
4
(OMIM) ? mutation can cause hereditary persistence of fetal hemoglobin 1 / 7739
5
(HPO:0001417) X-linked inheritance 173 / 7739
6
(OMIM) F-cell production 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fetal hemoglobin (HbF) production varies over a 20-fold range and is under genetic control. Using microscopic radial immunodiffusion and flow cytometric immunofluorescent assays to determine the percentage of HbF-containing F reticulocytes and F cells in patients with sickle ...