Phenotype #0000337849

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448672
Associated disease	thalalpa
Phenotype details	see paper; ..., Hb Bart's during neonatal screening; microcytic/hypochromic anemia, mild reticulocytosis
Diagnosis/Initial	Hb Bart's (neonatal screening)
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	alpha thalassemia
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-04-11 15:36:04 +02:00 (CEST)
Date last edited	N/A

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