Artikel Jurnal Thalassemia Alfa Mayor dengan Mutasi Non-Delesi Heterozigot Ganda

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Abstract : A child
women aged 3 years with clinical symptoms of severe anemia, hepatosplenomegaly,
and requires regular blood transfusion. Clinical symptoms have arisen when the patient
3 months old. Peripheral blood smear shows a hypochromic, microcytic,
and anisopoicilocytosis. Normal HbA2 levels, HbF slightly increased, and are available
HbBart's. Father and mother have a near-normal haematological picture
DNA shows two non-deletion mutations (point mutations) in the globin gene a2yaitu
at codon 59 (GGCglisin → GACaspartat) and IVS2-nt142 (AG → AA). This case is the case
first found in the Department of Children's Health RS. Dr. CiptoMangunkusumo
Jakarta which has multiple heterozygous mutations at codon 59 and IVS2-nt142.
Clinical symptoms of thalassemia major are attributable to a mutation of codon 59 that results
an unstable hemoglobin variant (HbAdana) accompanied by a non-deletion mutation
in IVS2-nt142 causing an abnormal mRNA process.

Keywords : thalassemia alfa,
non-deleted mutations, codon 59, IVS2-nt142

Author : Dina Muktiarti,
Pustika Amalia Wahidiyat, Ita M. Nainggolan, Iswari Setianingsih

Journal Code: jpkedokterandd060123



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