Hemoglobin Beograd (B121 Glu-Val) nadir olarak bildirilen bir hemoglobin varyantýdýr. Türkiye’de ilk defa 1984’te bildirilmifltir. Bu yazýda ayný varyantýn 22 yaþýnda bir Türk erkeðinde saptanmasý sunulmaktadýr.

Hemoglobin Beograd (B121 Glu-Val) is a rarely reported hemoglobin variant. It was first reported in Turkey in 1984. This report is a further observation of this variant in a 22-years old Turkish man.

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Beta-talasemi, dünyada ve iran`da en sýk rastlanan genetik bozukluktur. iran fiiraz kentinde beta-talasemi majörün demografisini saptamak için 648 beta-talasemi hastasýnda kesitsel bir çalýþma yapýldý. Bu sýrada akrabalýk oraný, aile içi evlilikleri azaltmak için evlilik öncesi danýþma ve bunlarýn otozomal resesif genetik hastalýðý önlemeye etkisine bakýldý. Çalýþmaya talasemi majörlü hastalar alýndý ve onlarýn yaþý, cinsiyeti ve aralarý ndaki akrabalýklar sorgulandý. Beta-talasemili hastalarýn %40.6`sý ilk kuzen evliliði sonucu idi. Beta-talasemili hastalarýn aile içi evlilikleri ile normal toplum karþýlaþtýrýldýðýnda istatistiksel olarak anlamlý bir fark görüldü (p< 0.00001). Erkek ve kadýn beta-talasemik hastalar arasýnda bu açýdan fark görülmedi. Ayný konuda 22 yýl önce elde edilen verilerin karþýlaþtýrýlmasýnda aile içi evliliklerde %16.4 azalma görüldü. Ancak, evlilik öncesi danýþma yolu ile aile içi evliliklerde beta-talasemi riskinin artýþý hakkýnda eðitim ve bilgilendirme halen gereklidir.

Beta-thalassemia is among the most common genetic disorders in the world and in Iran, with widespread occurrence. A cross-sectional study on 648 beta-thalassemia patients in Shiraz, Iran was carried out to determine the demography of beta-thalassemia major in Shiraz city, Fars province, Iran and also the rate of consanguinity and the significance of pre-marriage counseling in decreasing familial marriages and consequently preventing this autosomal recessive genetic disease. All interviewed patients had thalassemia major and their age, sex, and the consanguinity between parents were recorded. 40.6% of beta-thalassemia patients were outcomes of first-cousin marriages. Comparison of the percentages of familial marriages (consanguinity) between parents of beta-thalassemia patients and a sample of normal population, revealed a statistically significant difference (p< 0.00001). A nonstatistically significant difference was observed between male (53.5%) and female (46.5%) thalassemia patients. Comparison of data with the situation in 22 years ago revealed a 16.4% decrease in familial marriages among thalassemic families, however, more education and awareness of young women and men about the increased risk of beta-thalassemia after familial marriage through pre-marriage counseling is still necessary.

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Nikotin dumansýz tütün dahil olmak üzere çeþitli þekillerde kullanýlýr. Dumansýz tütünün özel bir þekli olan Maraþ tozu baþta Kahramanmaraþ, Gaziantep ve diðer Güneydoðu illeri olmak üzere Güney Doðu Anadolu bölgesinde yaygýn olarak kullanýlýr. Bu çalýþmanýn amacý dumansýz tütünde bulunan nikotinin hematolojik parametrelere olan etkisini araþtýrmaktýr. Kahramanmaraþ ve çevresinden 92 Maraþ tozu kullanýcýsý ve 68 tütün kullanmayan kontrol çalýþmaya alýndý. Demir ve lökosit düzeyleri Maraþ tozu kullananlarda yüksek bulunurken (p< 0.001), monosit ve trombosit düzeyleri düþüktür (p< 0.05 ve p< 0.01). Maraþ tozu kullananlarda lökosit sayasýndaki yükseklik çeþitli dokulardaki inflamatuvar etkiye baðlanabilir. Buna göre Maraþ tozu, gerek içerdiði nikotin, gerekse tütüne özgül nitrozamin düzeylerinin çeþitli hücre, organ ve sistemik dolaþýmda kronik inflamatuvar deðiþikliklere yol açtýðý öne sürülebilir.

Nicotine is used in different forms including smokeless tobacco. A special kind of smokeless tobacco also known as Maraþ powder (MP) is widely used in southeastern region, especially Kahramanmaraþ, Gaziantep and other southeastern cities of Turkey. The aim of this study was to investigate the effect of nicotine on hematological parameters in MP users. Ninety-two MP users from Kahramanmaraþ and its environs and sixtyeight healthy controls who did not use MP were included in the study. We measured haematological parameters in the blood samples of MP users and controls. Our results showed that while iron and WBC levels were higher in MP users than the controls (p< 0.001), monocyte and platelet counts were lower (p< 0.05 and p< 0.001, respectively). Increased leukocyte counts in MP users may be an indicator of the present inflammatory events in various tissues. So, we assume that MP, because of either high nicotine content or high tobacco-specific nitroso amines levels (TSNA), causes chronic inflammatory changes in various cells, organs and systemic circulation.

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Bu çaliþmada amacimiz talasemili hastalarda transfüzyonun solunum fonksiyon testlerine (SFT) etkisini saptamakti. Kir küç olgu (34 majör, 6 intermedia ve 2 S/B talasemili hasta, çaliþmaya alindi. Yirmi bir kadin ve 22 erkek hasta 6-29 yaþlarinda idi (ortalama ± SD: 13.82 ± 4.96 yil). SFT, ECCS ile programli ST-250 spirometre ile yapildi. Transfüzyon genelde pre- ve posttransfüzyon SFT`yi etkilemese de bozuk olan pulmoner fonksiyonun tipinde transfüzyondan sonra kismi deðiþiklikler gözlendi.

Our aim in this study was to investigate the effects of transfusion on pulmonary function tests (PFT) in patients with thalassemia. A total of 43 patients (34 major, 6 intermedia and 3 S/B thalassemics), 21 females and 22 males aged 6 to 29 (mean ± SD: 13.82 ± 4.96) years participated. PFT was performed using a spirometry (ST-250) programmed with European Community for Coal and a Steal (ECCS) equations. Transfusion did not effect the PFT parameters at the pre- and posttransfusion period and but the type of pulmonary function disorders partially changed after transfusion in our patients.

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Apoptozis tümörlerde sýk görülen bir olay olup, hücre ölümüne yol açan aktif olarak düzenlenmiþ bir hücresel süreçtir. Apoptozise direnç göstermek, hücre kaybýný azaltarak tümöre bir avantaj saðlar. Bu çalýþmada non-Hodgkin lenfoma evre IV olan ve kemik iliði tutulumu olan 30 hastanýn kemik iliði dokusuna retrospektif olarak Fas/Apo-1, CD95 ve bcl-2 onkoprotein açýsýndan immünhistokimyasal inceleme yapýldý. Olgularýn %60’ý kemoterapi almakta idi. Çalýþmada, apoptozisi indükleyen Fas/CD95 inhibe eden bcl-2 immünreaktivitesi ile yaþ, cinsiyet, kemik iliðinde malign hücre infiltrasyonu paterni, tipi ve kemoterapi ile olan ilgisi gibi klinikopatolojik deðiþkenler arasýndaki iliþkiye bakýldý. Fas/CD95 23 olguda pozitifti. Pozitif immünreaktivite kemoterapi etkisi ile yakýndan iliþkili idi (p= 0.0002). Bcl-2 ise 7 olguda pozitifti. Bcl-2 pozitifliði ile cinsiyet arasýnda (p= 0.03), kemik iliðinde malign hücre infiltrasyon paterni arasýnda (p= 0.02) ve kemoterapi etkisinin olmamasý arasýnda (p= 0.0004) yakýn iliþki saptandý. Sonuç olarak non-Hodgkin lenfomada apoptozis sýk görülen bir durumdur. Fas/CD95 ve bcl-2, kemik iliði tutulumu olan non-Hodgkin lenfomada apoptozis yorumu yaptýracak bir tümör iþaretleyicisi olarak kullanýlabilir. Fas/CD95 ekspresyonu kemik iliðine kemoterapinin etkisini gösterebilirken bcl-2 ekspresyonu apoptozise direnci gösteren baðýmsýz bir iþaretleyici olarak kullanýlabilir.

Apoptosis is a feature commonly seen in tumors; it is an actively regulated cellular process that leads to cell death, in fact the ability to resist apoptosis may seem to offer an advantage to a growing tumor by slowing down the cell loss rate. The present study is a retrospective study aiming at evaluating the Fas/Apo-1, CD95 and bcl-2 oncoproteins immunohistochemically in 30 bone marrow tissue specimens invaded by non- Hodgkin lymphomas (stage IV), 60% of cases were under chemotherapy regimen, while the remainders were still. The study included the significance of the apoptotic inducer Fas/CD95 and apoptotic inhibitor bcl-2 immunoreactivity in relation to a number of clinicopathological variables including age, sex, pattern of malignant cell infiltration in bone marrow, type of malignant cells disseminated and the effect of chemotherapy in relation to apoptotic changes. Fas/CD95 immunoreactivity was positive in 23 cases; 76.7%, positive immunoreactivity was significantly associated with the chemotherapeutic effect (p= 0.0002). On the other side bcl-2 immunoreactivity was positive in 7 cases; 23.3%. A significant association was found between bcl-2 positive immunoreactivity and sex (p= 0.03), pattern of malignant cell infiltration in bone marrow (p= 0.02) and lack of therapy effects (p= 0.0004). As a conclusion (1) Apoptosis is a common feature in non-Hodgkin ’s lymphomas as confirmed by the high incidence of the apoptotic inducer Fas/CD95 positive immunoreactivity; (2) Fas/CD95 and bcl-2 as a tumor markers may work as a useful aid in establishing an apoptosis interpretation in cases of non-Hodgkin ’s lymphomas (stage IV); (3) Fas/CD95 expression translate the chemotherapeutic effects on malignant cells in non-Hodgkin ’s lymphomas; meanwhile the apoptotic inhibitor bcl-2 expression is an independent negative prognostic marker that has been shown to confer resistance to apoptosis.

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Primer biliyer siroz (PBS), küçük intralobuler safra yollarýna sürekli T-lenfosit aracýlýklý bir saldýrý sonucu, bunlarýn hasarlanmasý ile karakterize bir hastalýktýr. PBS’li hastalar, hastalýklarýnýn seyri sýrasýnda baþka otoimmün hastalýklarla karþýlaþabilirler. Otoimmün hemolitik anemi ile PBS birliði çok nadir bildirilmiþtir. Ursodeoksikolik asit (UDCA), endojen safra asitlerinin deterjan etkisini azaltarak, birlikte olan hemolitik süreci de azaltýr. Bu yazýda PBS seyri sýrasýnda otoimmün hemolitik anemi görülen; UDCA ve kýsa süreli prednizon ile iyi yanýt alýnan bir kadýn hasta bildirilmektedir.

Primary biliary cirrhosis (PBC) is characterized by a continuous T-lymphocyte mediated attack on small intralobular bile ducts, with their gradual destruction. Patients with PBC often exhibit concomitant autoimmune conditions, and autoimmune hemolytic anemia (AIHA), that is idiopathic in 50% of cases, has rarely been associated to PBC. Ursodeoxycholic acid (UDCA) has been considered the main treatment to PBC patients through a decrease in the detergent effect of endogenous bile acids, concomitantly reducing the hemolytic process. We report the case of a female patient with AIHA complicating PBC, treated with short course prednisone and UDCA, with good response.

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Eriþkin polikistik böbrek hastalýðý ve ailesel multipl miyelomu olan, hastalýk seyri sýrasýnda masif perikardiyal efüzyon ve dilate kardiyomiyopati geliþen 80 yaþýnda bir erkek hasta sunulmaktadýr. Tek bir belirgin genetik bozukluk saptanamamýþ olmakla birlikte bazý ailelerde multipl miyeloma olgularý görülebilir. Etyolojide çevresel faktörler de suçlanmaktadýr. Multipl miyeloma, miyokard ve perikard tutulumu ile komplike olabilir ancak bazý olgularda taný ancak postmortem incelemeyle konabilir.

An 80-years-old-man with adult polycystic kidney disease and familial multiple myeloma that is complicated with massive pericardial effusion and dilated cardiomyopathy during the course of the disease is presented. Although no definite single genetic disorder is described, multiple myeloma cases may be seen in certain families. Environmental factors are also blamed in the etiology. Multiple myeloma may be complicated by myocardial and pericardial involvement, diagnoses of which are possible only during postmortem examination in some cases.

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