Hemoglobin Lepore-beta-thalassemia syndrome

Orpha code: 330032OMIM code:

Definition

A rare beta-thalassemia associated with another hemoglobin anomaly characterized by the presence of the hemoglobin Lepore variant in association with beta-thalassemia. Clinical presentation is highly variable, depending on the type of beta-thalassemia, and ranges from severe hypochromic microcytic anemia and complete transfusion dependency to moderate, compensated anemia without a need for regular blood transfusions.

Disease data
Classification

Disease

Synonyms
HbLepore-beta-thalassemia syndrome
HbLepore - beta-talasemia
Lepore - beta-talasemia
Lepore-beta-thalassemia syndrome
ORPHA code
330032
OMIM code
-
ICD10 code
D56.8
ICD11 code
-

No additional description.

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