Belgian Genetic Tests database
Hemoglobin M disease
| Name: |
Hemoglobin M disease
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| Description: |
A rare hemoglobinopathy characterized by the presence of hemoglobin variants with structural abnormalities in the globin portion of the molecule which lead to auto-oxidation of heme iron, resulting in methemoglobinemia. Patients present with cyanosis for which no treatment is necessary. Mode of inheritance is autosomal dominant.
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| ORPHAcode: |
330041
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| Synonyms: |
M hemoglobinopathy
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| XREF(s): | |
| Analyte(s): | |
| Created: |
13 May 2019 - 01:02
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| Changed: |
22 Jun 2023 - 16:14
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