Delta-beta-thalassemia

General Information (adopted from Orphanet):

Synonyms, Signs: HBFQTL1
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, HB GENE CLUSTER-RELATED DELTA-BETA THALASSEMIA, INCLUDED
HEMOGLOBIN F, HEREDITARY PERSISTENCE OF
HPFH
Number of Symptoms 6
OrphanetNr: 231237
OMIM Id: 141749
ICD-10: D56.2
UMLs: C0271985
MeSH:
MedDRA: 10012236
Snomed: 16360009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Beta-thalassemia associated with another hemoglobin anomaly
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
2
(HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
3
(HPO:0011904) Persistence of hemoglobin F 5 / 7739
4
(HPO:0011902) Abnormal hemoglobin Very frequent [Orphanet] 18 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Persistence of fetal hemoglobin 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Classic hereditary persistence of fetal hemoglobin (HPFH) is characterized by a substantial elevation of fetal hemoglobin (HbF) in adult red blood cells. There are no other phenotypic or hematologic manifestations. Expression of the HBG1 and HBG2 genes, which ...
Clinical Description OMIM Conley et al. (1963) reported hereditary persistence of fetal hemoglobin in 79 individuals from 15 African American families. Some individuals had only fetal hemoglobin with glycine-136 (HBG2), whereas others had both glycine-136 and alanine-136 (HBG1) forms of fetal ...
Molecular genetics OMIM - Deletions in the Beta-Globin Gene Cluster on 11p15

Kan et al. (1975) identified deletions in the delta and beta HB loci in individuals with increased HbF.

Bernards and Flavell (1980) mapped the beta-like ...

Population genetics OMIM Boyer and Dover (1982) calculated a frequency of about 0.35 for the gene responsible for increased F-cell levels in African Americans.