Article
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
European journal of medical genetics - 1 May 2020
Dabboubi Rym, Amri Yessine, Yahyaoui Salem, Mahjoub Rahma, Sahli Chayma Abdelhafidh, Sahli Chaima, Hadj Fredj Sondess, Bibi Amina, Sammoud Azza, Messaoud Taieb
Abstract excerpt
Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in the reported data. The patient was referred to our hospital to explore a severe hypochromic and microcytic anemia. The laboratory evaluation including...
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