Hemoglobin Lepore-beta-thalassemia syndrome

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Name:
Hemoglobin Lepore-beta-thalassemia syndrome
Description:
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.
ORPHAcode:
330032
Synonyms:
HbLepore-beta-thalassemia syndrome
Lepore-beta-thalassemia syndrome
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14