ORPHA:2133
Hemoglobin E disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Hemoglobin E disease (HbE) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin E, with a generally benign, asymptomatic presentation.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin E disease | |
| fr | Hémoglobinose E | |
| de | Hämoglobin-E-Krankheit | |
| es | Hemoglobinosis E | |
| it | Emoglobinopatia E | |
| nl | Hemoglobine E-ziekte | |
| pt | Doença de hemoglobina E | |
| pl | Choroba hemoglobiny E | |
| cs | Hemoglobinopatie s hemoglobinem E | |
| uk | Хвороба гемоглобіну Е | |
| zh | 血红蛋白E病 | |
| tr | Hemoglobin E hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D58.2 | NTBT | attributed | validated |
| ICD-11 | 3A51.A | E | specific | validated |
| MONDO | 0016243 | E | validated | |
| UMLS | C0238159 | E | validated | |
| GARD | 2641 | E | validated | |
| MedDRA | 10053215 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:707786Thalassemia
rare genetic diseases; rare hematological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HBB | Disease-causing germline mutation(s) in | Assessed | HGNC:4827 | ENSG00000244734 | 141900 | 11p15.4 | hemoglobin subunit beta | 21886666[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
13 annotations · validated 2021-08-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0010972 | Anemia of inadequate production | |
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0032231 | Hypochromia | |
| HP:0004840 | Hypochromic microcytic anemia | |
| HP:0020059 | Increased red blood cell count | |
| Frequent (79-30%) | ||
| HP:0011905 | Reduced hemoglobin A | |
| Occasional (29-5%) | ||
| HP:0004817 | Drug-sensitive hemolytic anemia | |
| HP:0005546 | Increased red cell osmotic resistance | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001622 | Premature birth | |
| HP:0001744 | Splenomegaly | |
| Very rare (<4-1%) | ||
| HP:0005268 | Spontaneous abortion | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 27456306[PMID]_17654063[PMID]_21886666[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2133
- This record as JSON: /data/d/2133.json