Scopus
YÖKSİS Eşleşti
Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report
Transfusion and Apheresis Science · Ağustos 2023
YÖKSİS Kayıtları
Hereditary thrombocytopenia with familial novel mutation in MYH9 gene: A familial case report
TRANSFUSION AND APHERESIS SCIENCE · 2023 SCI-Expanded
PROFESÖR RAFİYE ÇİFTÇİLER →
Makale Bilgileri
DergiTransfusion and Apheresis Science
Yayın TarihiAğustos 2023
Cilt / Sayfa62
Scopus ID2-s2.0-85152707503
Özet
One of the rarest types of hereditary thrombocytopenia is the MYH9-related disorder. This spectrum of disorders is characterized by large platelets with or without leukocyte inclusion bodies, a decrease in the total number of platelets, and autosomal dominant inheritance. Proteinuric nephropathy that frequently progresses to end-stage renal failure, as well as the beginning of progressive high-frequency sensorineural hearing loss in young adults, is also associated with MYH9-related disorder. In this case report, we presented three family members who had thrombocytopenia and in whom a heterozygous novel 22 bp deletion (c.4274_4295del) was detected which is located in exon 31 of the MYH9 gene. There was no evidence of bleeding in the family members we presented and thrombocytopenia was detected incidentally. Additionally, renal failure, hearing loss, presenile cataracts, and clinical symptoms were not detected in these family members. This novel mutation detected in the MYH9 gene has not been reported in the literature before.
Yazarlar (4)
1
Rafiye Çiftçiler
ORCID: 0000-0001-5687-8531
2
Özgür Balasar
ORCID: 0000-0002-2945-9355
3
Hilal Keyik
4
Ali Erdinc Ciftciler
Anahtar Kelimeler
Döhle body
Giant platelet
Hereditary macrothrombocytopenia
MYH9 gene
Thrombocytopenia
Kurumlar
Ankara Numune Education and Research Hospital
Ankara Turkey
Konya City Hospital
Konya Turkey
Selçuk Tip Fakültesi
Konya Turkey
Metrikler
1
Atıf
4
Yazar
5
Anahtar Kelime