Türk populasyonunda yapılan çalışmalarda çok sayıda yeni anormal hemoglobinler tanımlanmıştır. Bu gözden geçirme makalesinde son dört yılda yayınlanan anormal hemoglobinlerle, moleküler analizi yapılan 88 olgunun dökümünü vermektedir.

In this review, abnormal hemoglobins published in Turkish population during the last 4 years are presented. Further, analysis of the 88 abnormal hemoglobins is geven.

Abstract | Full Text PDF

Türkiye ’de Hb S ’in ilk kez Aksoy tarafından belirlenmesinden sonra gözlenen anormal hemoglobinlerin sayısında büyük artış olmuştur. Beta globin gen ailesi haplotipleri çalışılan mutasyonun genetik kökeninin belirlenmesinde kullanılmaktadır. Çalışmamızda; ülkemizde gözlenen Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon ve Hb J-Iran olmak üzere toplam altı anormal hemoglobin mutasyonunda beta globin gen ailesi haplotipleri incelenmiştir. Bu çalışmada; Hb G-Coushatta mutasyonu ile ilintili olan, Dünyada ve Türkiye ’de bildirilmemiş iki haplotip (-++---+ ve -+-++++) saptanmıştır. Hb J-Iran ile ilgili olarak ise ilk kez haplotip türü (-+-++++) gösterilmektedir.

Since the first observation of hemoglobin S (Hb S) in Turkey by Aksoy, the number of hemoglobin variants reported was increased. Beta globin gene cluster haplotypes are being used to determine the origin of the mutations under interest. We studied the beta globin gene cluster haplotypes for the six different abnormal hemoglobins which are Hb S, Hb D-Los Angeles, Hb G-Coushatta, Hb E, Hb E-Saskatoon and Hb J-Iran observed in Turkey. In this study, we report two novel haplotypes [- + + - - - +] and [- + - + + +] in association with the Hb G-Coushatta mutation. The haplotype for the Hb J-Iran is also reported as [- + - + + + +] for the first time in world populations from Turkey.

Abstract | Full Text PDF

Platelet hyperaggregation in ischaemic stroke patients is a proven finding, and associated with increased expression of the platelet surface GPIIb/IIIa receptor. The polymorphism occurs at nucleotide position 1565 of the GPIIIa gene resulting a 33Leu-Pro change. Data are conflicting regarding the abnormal function of the PlA1/A2 receptor in stroke. The aim of the study was to address the difference of platelet receptor function in ischemic stroke patients with the wild PlA1/A1 and heterozygous PlA1/A2 genotype. A total of 51 patients with PA1/A1 and 54 patients with PlA1/A2 genotypes were enrolled. Polymerase chain
reaction was used for genotyping of platelets. Platelet aggregation was measured in whole blood and in platelet rich plasma (PRP). Flow cytometry was used for measuring surface molecule expression (CD42b, CD41a, CD61, CD62P) and fibrinogen binding capacity of cells with phosphate buffer solution (PBS) in comparison with activation by ristocetin in whole blood as well as by adenosine diphosphate (ADP) in PRP. In comparison with wild types, platelets carrying the PlA1/A2 genotypes showed hyperaggregation measured
in whole blood and induced by ristocetin (p< 0.05). Using whole blood flow cytometry with ristocetin induction, the CD62P+/FIB- (P selectin) and the CD62P+/FIB+ were more expressed in heterozygous platelets as compared to wild types (p< 0.01 and p< 0.05), respectively. According to mean fluorescence intensity with ADP induction, an increased expression of CD61+, CD61+/CD41+ and CD62P+ in PlA1/A2 platelets were detected
as compared to the group carrying the wild type (p< 0.0001, p= 0.006, p= 0.0001), respectively. These findings support the possibility that in ischaemic stroke patients, platelets carrying PlA1/A2 genotypes can be activated by different inductors in a way, which leads to permanent hyperfunction of platelet surface receptor GPIIIa.

Abstract | Full Text PDF

Hemoglobinopatilerin önlenmesinde evlilik öncesi tarama programları kadar toplumun eğitilmesi de önemlidir. Bu çalışmada üniversite öğrencilerinin hemoglobinopatiler konusunda bilgilendirilmesi amaçlanmıştır. Eğitim öncesinde ve sonrasında öğrencilere açık ve kapalı uçlu sorular içeren anket verilmiştir. Barkovizyon kullanı larak talasemi ve orak hücreli aneminin klinik özelliklerini, genetik geçişini, kan sayımı ve hemoglobin elektroforezi ile yapılan taramanın hastalığın önlenmesindeki önemini anlatan 20 dakikalık eğitim verilmiştir. Yapılan 42 seminerde katılım oranı düşüktür (n: 1348, %5 ). Katılımcıların %74’ü talasemiyi daha önce duyduğunu belirtmekle birlikte bunların sadece %25’i, %11.7’si orak hücreli anemide doğru bilgi sahibiydi. Eğitim sonrası talasemide
ve orak hücreli anemide bu oranlar %86.2 ve %72.1’e yükseldi. Katılanların sadece %13.6’sı taşıyıcı olmanı n riskini bilirken bu oran eğitimle %78.6’ya yükseldi. Eğitim sonrası öğrencilerin %92.4’ü bu hastalıkların kalıtımla geçtiğini, %78.8’i akraba evliliklerinin hasta çocuğa sahip olma riskini arttırdığını öğrendi. Hemoglobinopatilerin önlenmesi isteniyorsa bu konular orta ve yüksek öğretimin ders programlarında yer almalıdır.

In addition to premarital screening programs, education of the general population is important in preventing hemoglobinopathies. The aim of the present study was the education of university students. Short questionnaires were applied before and after a prepared lecture. A 20-minute audiovisual education was provided including the clinical characteristics and inheritance of thalassemia and sickle cell anemia (SCA) as well as the
importance of carrier screening. The attendance to 42 lectures was low (n= 1348 = 5%). Seventy-four percent of the students had heard of thalassemia. The percentage of the students who had some accurate knowledge was 25% for thalassemia and 11.7% for SCA. Following the lecture, these numbers increased to 86.2% and 72.1% for thalassemia and SCA, respectively. Only 13.6% of the students were aware of the risk of being carriers, but this increased to 78.6% following the lecture; 92.4% learned that these hemoglobinopathies were inherited and 78.8% learned that consanguineous marriages would increase the risk. Education on hemoglobinopathies must be integrated into the curricula of middle schools and high schools.

Abstract | Full Text PDF

Çekirdekli hücrelerde fosfatidilserinin (PS) hücre zarı dış yüzeyine çıkması bir apoptoz belirteci olup trombositlerde apoptozdan ziyade aktivasyonu düşündürmektedir. Diğer taraftan, çekirdekli hücrelerdeki apoptoz ve trombositlerdeki aktivasyon arasında birçok benzerlik bulunmaktadır. Bu çalışmada trombosit aktivasyonu ve apoptozu arasındaki ilişkiyi araştırdık. Sağlıklı 22 vericiden taze olarak alınan kandan izole edilen trombositler calcium ionophore A23187 bulunan ve bulunmayan tüplerde inkube edildi. Trombosit aktivasyon belirteci olarak CD62P ve CD63, apoptozunun belirteci olarak anti-caspase-3 antikoru ve JC-1 katyonik boyası, hücre dış yüzeyindeki PS tespiti için ise Annexin-V kullanıldı. Tüm belirteçler A23187 ile inkubasyon başlangıcında, 20. dakikada ve 5. saatte akım sitometrisi ile çalışıldı. İnkübasyonun 5. saatinde caspase 3 aktivasyonu ile PS ekternalizasyonu, ∆Ψm depolarizasyonu, CD63 arasında ve ayrıca PS eksternalizasyonu ile CD62P arasında anlamlı korelasyon bulundu. Bu bulgular trombosit aktivasyonu ve apoptozu arasında bir ilişkinin olduğunu, trombosit aktivasyonunun apoptoza ilerlediğini düşündürmektedir.

Phosphatidylserine (PS) externalization is a marker for the nucleated cell apoptosis, and refers cellular activation rather than apoptosis in platelets. On the other hand, several similarities exist between platelet activation and apoptosis in nucleated cells. Herewith we investigated the relationship between platelet activation and platelet apoptosis. Platelets isolated from fresh blood of 22 healthy volunteers were incubated with and without calcium ionophore A23187. Platelet activation was evaluated with CD62P and CD63 antibodies, whereas apoptosis with intracellular anti caspase 3-antibody and JC-1 cationic dye. In order to detect PS externalization we used Annexin V by flow cytometry at the beginning, 20th min and 5th hours of the incubation, respectively. There were positive correlations between caspase-3 activation and PS externaization, ∆Ψm depolarization, CD63, and also between PS externaization and CD62P in incubations with A23187 at 5th hours of incubations. These results suggest that there is a relationship between activation and apoptosis in platelets, and platelet activation may progress to platelet apoptosis.

Abstract | Full Text PDF

Ekstramedüller hematopoez (EM), polistemia veranın (PV) seyrinde nadir olarak gelişebilir. Bu vaka raporunda PV’nın karmaşık seyri sırasında spinal epidural ekstramedüller hematopoez gelişen 57 yaşında bir hastanın hidroksiüre, 32P, radyoterapi ve cerrahi dahil değişik tedaviler sonunda durumu tartışıldı.

Extramedullary hematopoiesis (EMH) may uncommonly develop during the course of polycythemia vera (PV). We herein present a 57-year-old patient with spinal epidural EMH that developed during the complicated course of PV and his outcome under different treatment modalities including hydroxyurea, 32P, radiotherapy and surgery.

Abstract | Full Text PDF

Malignant pleural effusion in myeloma (MMPE) is a rare terminal event; with a median survival is four months. All the patients usually have multiple poor prognostic factors and none of them (like beta 2-microglobulin, karyotype, Stage of disease, C-reactive protein etc.) correctly predicts the survival. We are reporting a series of five cases and evaluated the factors influencing the overall survival. All of our patients had a very good response to treatment and had a better survival compared to the reported cases so far. After reviewing the literature carefully we found that timing of development of pleural effusion is probably the most important prognostic factor. Those who develop effusion after some time lag form the initial treatment, will have a poor survival (median four months) compared to those who had effusion at the start of the disease.

Abstract | Full Text PDF

Abstract | Full Text PDF

Abstract | Full Text PDF