hemoglobin D disease
MONDO:0019537Mondo
Findings
No curated finding names hemoglobin D disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0019537), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal hemoglobinHPOHP:0011902
- Very frequent (80% to 99% of cases)
- Imbalanced hemoglobin synthesisHPOHP:0005560
- Very frequent (80% to 99% of cases)
- Decreased mean corpuscular hemoglobin concentrationHPOHP:0025547
- Frequent (30% to 79% of cases)
- Decreased mean corpuscular volumeHPOHP:0025066
- Frequent (30% to 79% of cases)
- Increased HbA2 hemoglobinHPOHP:0045048
- Frequent (30% to 79% of cases)
- Reduced alpha/beta synthesis ratioHPOHP:0011907
- Frequent (30% to 79% of cases)
- Reduced beta/alpha synthesis ratioHPOHP:0011906
- Frequent (30% to 79% of cases)
- Reduced hemoglobin AHPOHP:0011905
- Frequent (30% to 79% of cases)
- HbS hemoglobinHPOHP:0045047
- Occasional (5% to 29% of cases)
- Sickled erythrocytesHPOHP:0030058
- Occasional (5% to 29% of cases)
- Abdominal painHPOHP:0002027
- Very rare (1% to 4% of cases)
- AnemiaHPOHP:0001903
- Very rare (1% to 4% of cases)
Show the remaining 2
- PallorHPOHP:0000980
- Very rare (1% to 4% of cases)
- SplenomegalyHPOHP:0001744
- Very rare (1% to 4% of cases)
Where it sits
- A kind of