ORPHA:90039
Hemoglobin D disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hemoglobin D disease | |
| fr | Hémoglobinose D | |
| de | Hämoglobin-D-Krankheit | |
| es | Enfermedad de la hemoglobina D | |
| it | Emoglobinopatia D | |
| nl | Hemoglobine D-ziekte | |
| pt | Doença da hemoglobina D | |
| pl | Choroba hemoglobiny D | |
| cs | Nemoc hemoglobinu D | |
| uk | Хвороба гемоглобіну D | |
| zh | 血红蛋白D病 | |
| tr | Hemoglobin D 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 | 3A51.6 | E | specific | validated |
| MONDO | 0019537 | E | validated | |
| UMLS | C0272080 | E | validated | |
| MedDRA | 10055019 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:466066Genetic hemoglobinopathy
rare genetic diseases - ORPHA:68364Hemoglobinopathy
rare hematological diseases; rare transplant-related disorders
No children.
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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 | 11757720[PMID]_25332633[PMID] |
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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.
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HPO phenotypes
14 annotations · validated 2021-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011902 | Abnormal hemoglobin | |
| HP:0005560 | Imbalanced hemoglobin synthesis | |
| Frequent (79-30%) | ||
| HP:0025547 | Decreased mean corpuscular hemoglobin concentration | |
| HP:0025066 | Decreased mean corpuscular volume | |
| HP:0045048 | Increased HbA2 hemoglobin | |
| HP:0011907 | Reduced alpha/beta synthesis ratio | |
| HP:0011906 | Reduced beta/alpha synthesis ratio | |
| HP:0011905 | Reduced hemoglobin A | |
| Occasional (29-5%) | ||
| HP:0045047 | HbS hemoglobin | |
| HP:0030058 | Sickled erythrocytes | |
| Very rare (<4-1%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0001903 | Anemia | |
| HP:0000980 | Pallor | |
| HP:0001744 | Splenomegaly | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26119666[PMID]_21194265[PMID]_ 33884322[PMID]_ 26405395[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90039
- This record as JSON: /data/d/90039.json