A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma

GÜRLEK GÖKÇEBAY, Dilek; Akpinar Tekgunduz, Sibel; SARICI, Dilek; UYSAL RAMADAN, Selma; Cavdarli, Busranur

doi:10.1016/j.transci.2019.06.002

A novel deletion involving exon 13 of factor VIII gene in a newborn with splenic hematoma

GÜRLEK GÖKÇEBAY D., Akpinar Tekgunduz S., SARICI D., UYSAL RAMADAN S., Cavdarli B.

Transfusion and Apheresis Science, cilt.59, sa.1, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 59 Sayı: 1
Basım Tarihi: 2020
Doi Numarası: 10.1016/j.transci.2019.06.002
Dergi Adı: Transfusion and Apheresis Science
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
Anahtar Kelimeler: Deletion, Hemophilia, Newborn, Splenic hematoma
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Splenic hematoma is an exceptionally rare event in newborn period that usually occurs in concomitant birth trauma and bleeding disorder. This report presents a newborn case with severe hemophilia A, who had a splenic hematoma presented on the second day of life with severe anemia, abdominal distention, abdominal and scrotal ecchymosis. The patient was successfully treated medically with factor VIII concentrates without splenectomy. Molecular analysis of the factor VIII gene revealed a hemizygous deletion in exon 13.