Türkiye’de Alfa Talasemilerin Hematolojik ve Moleküler Spektrumu: Hacettepe Deneyimi

Objective: The spectrum of α-thalassemias correlates well with the number of affected α-globin genes. Additionally, combinations of the several non-deletional types of mutations with a large trans deletion comprising the 2 α-globin genes have an impact on the clinical severity. The objective of this study was to analyze the hematological and molecular data of 35 patients with Hb H disease from a single center in order to identify the genotypes of Hb H disease and genotype-phenotype correlations. Materials and Methods: Herein, we report the hematological and mutational spectrum of patients with Hb H disease (n=35). Additionally, genotypes of α-gene mutations of 78 individuals, who were referred to our institution for α-gene screening, were analyzed. Results: Supporting the previous data from Turkey, -α3.7 was the most common mutation among patients with Hb H disease (62.8%) and in the other 78 subjects (39.7%). Of the patients with Hb H disease, the most common genotypes were -α3.7/--20.5, -α3.7/--26.5, and -α3.7/--17.5 in 10 (28.6%), 6 (17.1%), and 6 (17.1%) patients, respectively. Another small deletion, -4.2 alpha, and several non-deletional types of α-gene mutations, namely α (-5nt): IVS-I donor site (GAG.GTG.AGG->GAG.G-----); α (PA-2): AATAAA>AATGGA, and α (cd59): GGC->GAC, were found to be associated with Hb H disease when present at trans loci of one of the large deletions given above. The combinations consisting of 1 non-deletional and 1 of the large deletional types of mutations (αTα/--) at trans loci were found to result in a more severe phenotype compared to the genotypes composed of 1 small trans deletion of a large deletion (-α/--). The combination of α (Cd59) and -- in trans was associated with severe phenotype and the disease was associated with an increase in Hb Bart’s level with null Hb H. In spite of the presence of 2 intact α-globin genes, homozygosity for PA-2 mutation resulted in severe Hb H disease. Conclusion: This study indicated that Hb H disease is not rare in Turkey and its genotype is quite heterogeneous.PubMedWoSScopu

Gümrük F: Red Cell glucose-6-phosphate dehydrogenase deficiency in Turkey

A AB BS ST TR RA AC CT T Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common erythrocyte enzyme deficiency in the world. The epidemiological, biochemical and molecular studies on G6PD enzyme deficiency performed over the past 50 years are summarized herein, with special emphasis on the findings of studies related to the enzyme deficiency in Turkey. K Ke ey y w wo or rd ds s: : Glucose-6-phosphate dehydrogenase (G6PD) deficiency Ö ÖZ ZE ET T T Tü ür rk ki iy ye e' 'd de e e er ri it tr ro os si it t g gl lu uk ko oz z--6 6--f fo os sf fa at t d de eh hi id dr ro og ge en na az z ( (G G6 6P PD D) ) e en nz zi im m e ek ks si ik kl li i¤ ¤i i Eritrosit glukoz-6-fosfat dehidrogenaz (G6PD) enzim eksikli¤i dünyada en s›k görülen eritrosit enzim eksikli¤idir. Eritrosit glukoz-6-fosfat dehidrogenaz enzim eksikli¤inin epidemiyolojisi, biyokimyasal ve molekuler analizleri ile ilgili dünyada ve ülkemizde son 50 y›lda yap›lan çal›flmalar özetlenmifltir. A An na ah ht ta ar r k ke el li im me el le er r: : Glukoz-6-fosfat dehidrogenaz eksikli¤

Fanconi Anemia and Ataxia Telangiectasia in Siblings who Inherited Unique Combinations of Novel FANCA and ATM Null Mutations

A unique consanguineous family with 2 genomic instability disorders, Fanconi anemia and ataxia telangiectasia, revealed exceptional combinations of null mutations in the FANCA and ATM genes. Two siblings with Fanconi anemia had novel homozygous consecutive microdeletions (c.1361-1370delCCTCCTTTGG, c.1374delC) adjoined to upstream 65 nucleotide direct tandem repeats and deletion hotspot motifs in the FANCA gene. The sibling with ataxia telangiectasia revealed a homozygous p.Arg2993Stop (c.8977C>T) null mutation in the ATM gene. All patients were also heterozygous for the opposite mutations without any additional clinical or laboratory manifestations. Double heterozygote parents did not present any clinical symptoms suggestive of the 2 disorders

Survey of Hfe Gene C282Y Mutation in Turkish Beta-Thalassemia Patients and Healthy Population: A Preliminary Study

PubMedWo

Lysosomal Vesicles, Giant Granules, And Erythrophagocytosis In Chédiak-Higashi Syndrome

PubMe

Hereditary Elliptocytosis With Pyropoikilocytosis

PubMe

Vacuolization In Myeloid And Erythroid Precursors In A Child With Menkes Disease

PubMedWoSScopu

Akut Lenfoblastik Lösemi İdame Tedavisi Sırasında Gelişen İmmün Trombositopenik Purpura: Fazla Şüphe Gerektiren Nadir Bir Birliktelik, Bir Olgu Sunumu ve Literatür Derlemesi

Thrombocytopenia may develop in patients with acute lymphoblastic leukemia (ALL) due to myelosuppression of chemotherapy or relapse. Here we report a pediatric patient with ALL whose platelet counts decreased at the 102nd week of maintenance treatment. Thrombocytopenia was refractory to platelet infusions and bone marrow aspiration revealed remission status for ALL along with increased megakaryocytes. The cessation of chemotherapy for 2 weeks caused no increase in thrombocyte counts. The viral serology was unrevealing. A diagnosis of immune thrombocytopenic purpura (ITP) was established. After administration of intravenous immunoglobulin, the thrombocytopenia resolved. When thrombocytopenia occurs in patients with ALL in remission, ITP should be kept in mind after exclusion of the more common etiologies

The Feasibility of Magnetic Resonance Imaging for Quantification of Liver, Pancreas, Spleen, Vertebral Bone Marrow, and Renal Cortex R2* and Proton Density Fat Fraction in Transfusion-Related Iron Overload

PubMedWoSScopu