First observation of homozygote Hb Q-Iran (alpha 75 (EF4) Asp-His)

Temel Bulgular & Veri:Sivas kökenli anormal hemoglobini olan bir çocuğa moleküler analizle Homozigot Hb Q-Iran (α1 75(EF4)Asp-His tanısı konulmuştur.

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Sonuç & Katkı:Sivas kökenli anormal hemoglobini olan bir çocuğa moleküler analizle Homozigot Hb Q-Iran (α1 75(EF4)Asp-His tanısı konulmuştur.

🔬Tür:Araştırma Makalesi

📍Kapsam:Genişletilmiş Akademik Örneklem

⚙️Değişkenler:Homozigot · Çocuk · okul öncesi

Özet

Sivas kökenli anormal hemoglobini olan bir çocuğa moleküler analizle Homozigot Hb Q-Iran (α1 75(EF4)Asp-His tanısı konulmuştur.

Abstract

The first observation of homozygote Hb Q-Iran (α1 75(EF4) Asp-His) is presented in this report. The clinical and hematological data of the index case, his father and mother showed that homozygous or heterozygous Hb Q-Iran has no clinical importance.

Anahtar kelimeler

Homozigot Çocuk okul öncesi Hemoglobinler anormal Erkek Homozygote Child Preschool Hemoglobins Abnormal Male

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Bu Makaleye Atıf Yap

ÖZDAĞ, H., YILDIZ, İ., AKAR, N. (2008). First observation of homozygote Hb Q-Iran (alpha 75 (EF4) Asp-His). Turkish Journal of Hematology, Cilt: 25 - Sayı: 1, 48–50. https://ajindex.com/articles/413188

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Kaynakça (13)

Lorkin PA, Charlesworth D, Lehmann H, Rahbar S, Tuchinda S, Eng LI. Two haemoglobins Q, alpha 74 (EF3) and alpha-75 (EF4) aspartic acid to histidine. Br J Haematol 1970;19:117-25
Lie-Injo LE, Dozy AM, Kan YW, Lopes M, Todd D. The alpha-globin gene adjacent to the gene for HbQ-alpha 74 Asp replaced by His is deleted, but not that adjacent to the gene for HbG-alpha 30 Glu replaced by Gln; three-fourths of the alpha-globin genes are deleted in HbQ-alpha-thalassemia. Blood. 1979;54:1407-16
Aksoy M, Gurgey A, Altay C, Kilinc Y, Carstairs KC, Kutlar A, Chen SS, Webber BB, Wilson JB, Huisman TH. Some notes about Hb Q-India and Hb Q-Iran. Hemoglobin. 1986;10:215-9
Gurgey A, Ozsoylu S, Hicsonmez G, Irken G, Altay C. Acute lymphoblastic leukemia in a child with hemoglobins S and Q-Iran. Turk J Pediatr 1990;32:39-41
Abraham R, Thomas M, Britt R, Fisher C, Old J. Hb Q-India: an uncommon variant diagnosed in three Punjabi patients with diabetes is identified by a novel DNA analysis test. J Clin Path 2003;56:296-9
Altay Ç, Abnormal hemoglobins in Turkey. Turk J Hematol 2002;19:63-74
Akar N, Akar E, Tastan H. Feasibility of restriction enzyme protocols for the molecular diagnosis of abnormal hemoglobins in Turkish population. Am J Hematol 1999;62:198
Akar E, Ozdemir S, Hakki Timur I, Akar N. First observation of homozygous hemoglobin Hamadan (B 56 (D7) GLY-ARG) and beta thalassemia (-29 G>A)- hemoglobin Hamadan combination in a Turkish family. Am J Hematol 2003;74(4):280-2
Arcasoy A. Hemoglobinopathies in Turkey. Hematology Reviews 1992;6:1-7. 10 Arcasoy A, Turhano¤lu S, Gözdaşoğlu S, Oğur G. First observation of Hb J Iran B77 (EF1) His-Asp in Turkey. Hemoglobin 1986;10:209-13
Bircan İ, Güven AG, Ye¤in O, Plaseska D, Wilson JB, Ramachandran M, Huisman TH. Hb N Baltimore [alpha 2 beta 2 (95) (FG2) Lys-Glu] and Hb J Iran [alpha 2 beta 2 (77) (Ef1) His-Asp] observed in a Turkish family from Antalya. Hemoglobin 1990;14:453-7
Yenice S, Kemahlı S, Bilenoglu O, Gül Ö, Akar E, Basak AN, Akar N. Two rare hemoglobin variants in the Turkish population (Hb G-Coushatta (B22(B4)Glu_Ala) and Hb J-Iran (B77(EF1)His_Asp). Turk J Hematol 2000;171:27-8
Dinçol G, Aksoy M, Dinçol K, Kutlar A, Wilson JB, Huisman TH. Hemoglobin Hamadan or alpha 2 beta 256 (D7) Gly-Arg in a Turkish family. Hemoglobin 1984;8:423-5
Irken G, Oren H, Undar B, Duman M, Gulen H, Ucar C, Sanli N. Analysis of thalassemia syndromes and abnormal hemoglobins in patien