Hemoglobin Lepore-beta-thalassemia syndrome
Name: |
Hemoglobin Lepore-beta-thalassemia syndrome
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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.
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ORPHAcode: |
330032
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Synonyms: |
HbLepore-beta-thalassemia syndrome
Lepore-beta-thalassemia syndrome
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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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