Alpha-thalassemia - myelodysplastic syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HEMOGLOBIN H DISEASE, ACQUIRED
ATMDS
Acquired hemoglobin H disease
Acquired HbH disease
Number of Symptoms 15
OrphanetNr: 231401
OMIM Id: 300448
ICD-10: D46.7
D56.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Alpha-thalassemia-related diseases
 -Rare genetic disease
 -Rare hematologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
2
 (HPO:0000978) Bruising susceptibility Frequent [Orphanet] 123 / 7739
3
 (HPO:0011907) Reduced alpha/beta synthesis ratio 12858175 IBIS 6 / 7739
4
 (HPO:0002488) Acute leukemia Occasional [Orphanet] 29 / 7739
5
 (HPO:0011903) Hemoglobin H 15358626 IBIS 3 / 7739
6
 (HPO:0002863) Myelodysplasia Very frequent [Orphanet] 12858175 IBIS 30 / 7739
7
 (HPO:0004840) Hypochromic microcytic anemia 15358626 IBIS 15 / 7739
8
 (HPO:0001935) Microcytic anemia Very frequent [Orphanet] 32 / 7739
9
 (HPO:0003010) Prolonged bleeding time Frequent [Orphanet] 88 / 7739
10
 (HPO:0001873) Thrombocytopenia Very frequent [Orphanet] 224 / 7739
11
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
12
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
13
 (HPO:0002664) Neoplasm Occasional [Orphanet] 111 / 7739
14
 (HPO:0010978) Abnormality of immune system physiology Occasional [Orphanet] 148 / 7739
15
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alpha-thalassemia is a common inherited form of anemia that usually results from deletion of 1 or more of the duplicated alpha-globin genes on chromosome 16 (Higgs et al., 1989). A mild form of alpha-thalassemia is also associated with ...
Molecular genetics OMIM Inherited mutations of specific genes have elucidated the normal roles of the proteins they encode by relating specific mutations to particular phenotypes. However, many potentially informative mutations in such genes are lethal early in development. Consequently, inherited mutations ...