Eritrosit glukoz-6-fosfat dehidrogenaz (G6PD) enzim eksikliði dünyada en sýk görülen eritrosit enzim eksikliðidir. Eritrosit glukoz-6-fosfat dehidrogenaz enzim eksikliðinin epidemiyolojisi, biyokimyasal ve molekuler analizleri ile ilgili dünyada ve ülkemizde son 50 yýlda yapýlan çalýþmalar özetlenmiþtir.

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.

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Orak hücre anemisi olduðu bilinene 37 hasta, Edo eyaleti Benin þehrinde Benin Üniversitesi Eðitim Hastanesi rutin hematoloji kliniðine baþvurdukarýnda malarya parazitemisi açýsýndan incelendi. Parazitemi kantitatif “buffy coat” incelemesi ile belirlendi. Ýncelenen hasta grubunda malarya parazitemi sýklýðý %86.5 olarak bulundu. Erkek ve kadýn orak hücre anemisi hastalarý arasýnda parazitemi sýklýð açýsýndan anlamlý bir fark yoktu (p=0.35). Malarya parazitemisi hematokrit deðerinin 0.20’den daha az olmasý ile anlamlý olarak iliþkiliydi (p=0.03). Malarya profilaksi tipleri ile parazitemi arasýnda istatiksel olarak anlamlý bir farklýlýk yoktu. Sonuç olarak, paraziteminin önlenmesinde malarya profilaksisinin rolü önemsiz gözükmektedir. Bu nedenle, asýl olarak ilaçlý sivrisinek aðlarýnýn kullanýlmasý gibi diðer koruyucu önlemlere aðýrlýk verilmesi önerilmektedir.

Malaria parasitemia was assessed in 37 known sickle cell anemia patients attending the routine hematological clinic of the University of Benin Teaching Hospital, Benin-City, Edo State. Parasitemia was determined using the quantitative buffy coat analysis. The prevalence of malaria parasitemia among the population studied was 86.5%. There was no significant difference in the prevalence of parasitemia among the male and female sicklers (p=0.35). Malaria parasitemia was significantly associated with hematocrit <0.20 (p=0.03). There was no statistically significant difference between the type of prophylaxis used and parasitemia. In conclusion, the role of malaria prophylaxis in preventing parasitemia seems negligible. It is therefore recommended that more emphasis.

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OBJECTIVES: To study the spectrum of hematological manifestations and evaluate the relationship between various hematological manifestations and CD4 cell counts in a hospital-based cohort of HIV-infected adults in and around Varanasi, North India.
MATERIALS-METHODS: The clinical and hematological profiles of the patients attending the Infectious Disease Clinic, Varanasi, India were recorded. The relationship between CD4 counts and various hematological manifestations was analyzed.
RESULTS: A total of 470 HIV-infected individuals were followed for 830 person years of observation (PYO). Rate of hematological episodes was 1047 episodes per 1000 PYO. CD4 counts were significantly lower in individuals with severe anemia and neutropenia compared to those without. However, no relation could be established between thrombocytopenia and CD4 counts. In the above- mentioned population, CD4 levels were significantly lower in those with anemia/neutropenia harboring any particular disease compared to those who had the same disease without anemia/ neutropenia.
CONCLUSIONS: There is a strong negative association between CD4 counts and the severity of anemia and neutropenia in this population. They can be considered as good clinical indicators to predict and access the underlying immune status. Though fall in the CD4 levels during neutropenia is observed, it is difficult to comment since the estimations of CD4 rely on the total leukocyte counts. However, the relation between anemia and disease progression is straight forward and quite useful for the treating physician.

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Lösemiye özgü kimerik mRNA’larýn ters transkriptaz PCR ile saptanmasýnda standart Kontrollerin olmasý oldukça önemlidir. Lösemi hastalarýndan elde edilen kimerik genlere ait pozitif örnekler veya hücre hatlarýndan elde edilen standartlar yaygýn olarak kullanýlmaktadýr. Gerek hasta örnekleri, gerekse hücre hatlarýndan elde edilen pozitif kontroller, kýsýtlý, pahalý ve bir çok sorunlar oluþturmaktadýr. Daha ucuz, tekrar üretilebilir standartlarýn üretilmesi ihtiyaç haline gelmiþtir. Biz p190, t (9: 22) p210, t (4: 11), t (1: 19), t (15: 17), t (12; 21) kimerik gen bölgelerini plasmidlere klonlayarak daha ucuz ve tekrar üretilebilen standart pozitif kontrolleri ürettik. Bu plasmidler, lösemilerin moleküler genetik teþhisinde standart pozitif marker olarak PCR ve RT-PCR sýrasýnda kullanýlabilir inancýný taþýmaktayýz.

The diagnosis of leukemia-specific mRNAs by polymerase chain reaction (PCR) and reverse transcription-PCR (RT-PCR) require well-known positive standard controls. In general, the positive controls are obtained from cell lines and leukemia patients who have been diagnosed at the molecular level by RT-PCR. These are expensive and restricted sources for standard positive controls. Thus, there is a need for less expensive and reproducible standard positive controls in this area. We have cloned the t (9: 22) p190, t (9: 22) p210, t (4: 11), t (1: 19), t (15: 17), t (12; 21) breakpoint junctions of fusion genes into the plasmids. Cloned fusion genes are suitable for testing PCR experiments of the molecular genetic diagnosis of leukemia samples. We cloned and optimized fusion gene junctions as a standard positive control to check PCR efficiency and as a standard positive marker for diagnosis.

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Th1 (IFN-g, IL-2, TNF-a) ve Th2 (IL-4, IL-5, IL-10) tip sitokinler graft versus host hastalýðý(GvHH) patogenezinden sorumlu olduðu düþünülmektedir. Allo-HKHT yapýlan 23 hastada Th (CD4+) lenfositlerde hücre içi sitokinlerin ekspresyonu hem nötrofil engraftman haftasýnda (S1) hem de transplantasyon sonrasý 100. günde (S2) deðerlendirildi. CD4+TNF-a+ hücreler allo-periferik kan (PK) grubunda S1’de % 22’den S2’de % 26’ya arttý. Kemik iliði (K‹) grubunda CD4+IL-2+ hücreler allo-PK grubuna göre daha yüksek olma eðiliminde idi ve S2’dekinden daha yüksekti. Düzey II-IV GvHH olan hastalarda düzey 0-1 GvHH’lilere göre S1 de IL-2 ve TNF-a ekspresyonlarý anlamlý yüksek ve S2 de IL-2 ekspresyonlarýnda anlamlý oranda düþük olduðu görüldü. Kronik GvHH’li hastalarda S2’de IFN-g ekspresyonununda artýþ olma eðilimindeydi. Sonuçta, bu çalýþmadan elde edilen veriler GvHH’da Th1 sitokinlerin rolünü desteklemektedir.

Dysregulation of T-helper (Th)1 (IFN-g, IL-2, TNF-a) and Th2 (IL-4, IL-5, IL-10) type cytokines has been suggested in the pathogenesis of graft versus host disease (GvHD). We analyzed intracellular cytokine expression in Th (CD4+) lymphocytes in 23 patients undergoing allo-hematopoietic stem cell transplantation (HSCT) both in the week of neutrophil engraftment (S1) and on the posttransplant 100th day (S2). CD4+TNF-a+ cells increased from 22% at S1 to 26% at S2 in the allo-peripheral blood (PB) group. CD4+IL-2+ cells at S1 in the bone marrow (BM) group had a tendency to be higher than in the allo-PB group and also higher than at S2. IL-2 and TNF-a expressions at S1 were significantly higher and IL-2 expression at S2 was significantly lower in patients with grade II-IV acute GvHD compared with grade 0-I GvHD. IFN-g expression tended to be higher at S2 in the chronic GvHD group compared with the patient without GvHD. Consequently, the data in this study support the role of Th1 cytokines in GvHD.

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Gemtuzumab ozogamisin (GO, MylotargTM) eriþkin relaps akut myeloid lösemi (AML) vakalarýnda kemoterapötik olarak çalýþýlmýþ monoklonal bir antikordur. Çocuk hastalarda deneyim sýnýrlýdýr. Biz, tedavisinde GO kullanýlan altý pediatrik relaps/refrakter CD33+AML hastasýný sunmak istedik. GO tedavisi sonrasý bir hastada remisyon saðlandý, üç hastada kemik iliðinde <%5 blast ile yanýt elde edildi, iki hasta ise refrakterdi. Ýlaç yan etkisi olarak ateþ ve titreme, hipotansiyon ve hipoksi gözlendi. Üç hastada karaciðerde veno-oklusif hastalýk geliþti. Bunlardan ikisinde VOD ölüme katkýda bulundu. Bir hasta GO tedavisini hematopoetik kök hücre transplantasyonu sonrasýnda aldý ve VOD geliþmedi. Gemtuzumab ozogamisin pediatrik relaps/refrakter AML hastalarýnda VOD riski nedeniyle dikkatli kullanýlmalýdýr.

Gemtuzumab ozogamicin (GO, MylotargTM) is an antibody-targeted chemotherapy agent that has been studied in acute myeloid leukemia (AML) at first relapse in adults. There is limited experience in pediatric patients. We report six patients with refractory/relapsed CD33+AML who were treated with GO on compassionate-use basis. One patient attained remission. One patient is still alive following hematopoietic stem cell transplantation (HSCT), and one patient died in remission. Two patients were refractory and three patients had a response with <5% blasts in the bone marrow. Fever and chills, hypotension and hypoxia were observed as side effects. Three patients developed veno-occlusive disease (VOD) of the liver. Two of these three patients had persistence of VOD at the time of their deaths. One patient treated postSCT had bone marrow response without VOD. GO should be used cautiously in chemotherapy-refractory AML pediatric patients due to the high incidence of VOD.

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Hemofagositik sendrom, ateþ, halsizlik, kilo kaybý, lenfadenopati ve pansitopeni, bozulmuþ karaciðer fonksiyon testi, hipertriglserdemi, hiperferritinemi ile karakterli klinik tablodur. Histopatolojik olarak, retiküloendotel dokularda histiositten zengin mononükleer hücre infiltrasyonu ve active makrofajlar tarafýndan eritrosit, lökosit, platelet ve bunlarýn öncül hücrelerinin fagositozlarý ile karekterlidir. Hemofagositik sendromun, þiddetli enfeksiyon, malign ve otoimmün hastalýklar gibi güçlü immünolojik uyaranlar sonucu geliþtiði düþünülmektedir.

Hemophagocytic syndrome is characterized by fever, fatigue, weight loss, lymphadenopathy, and laboratory abnormalities including pancytopenia, liver dysfunction, hypertriglyceridemia and hyperfibrinemia. Histopathologically, lesions are characterized by mononuclear cell infiltration with marked histiocyte proliferation and phagocytosis of erythrocytes, leukocytes, platelets and their precursors by activated macrophages in the reticuloendothelial tissues. Hemophagocytic syndrome may develop from strong immunological stimuli such as severe infection, malignancy and autoimmune diseases.
We present a 73-year-old man with acute myeloblastic leukemia FAB M2 type (AML M2) whose bone marrow histology showed unusual hemophagocytosis by myeloid cells and myeloblasts.

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Kist hidatik echinococcus granulosusa baðlý oluþan ve %55-70 karaciðerde görülen paraziter bir hastalýktýr. Kist hidatik tedavisi primer cerrahi olmak üzere, medikal ve PAIR (perkütan aspirasyon injeksiyon reaspirasyon) tedavisi olmak üzere üç þekilde verilebilir. Nüks eden olgularda, cerrahi sonrasý rekurrensi azaltmak ve iþlemi kolaylaþtýrmak için PAIR ile birlikte medikal tedavi verilebilir. Medikal tedavide en sýk tercih edilen ajan albendazoldur. Albendazol kullanýmýna baðlý en sýk görülen yan etki karaciðer fonksiyon testi yüksekliðidir. Kemik iliði supresyonuna nadiren neden olur. Bu makalede albendazol kullanýmýna baðlý lökopeni ve trombositopeni geliþen bir vakayý literatürde daha önce görülmemesi nedeniyle sunduk.

Echinococcosis is a parasitic disease which occurs due to cyst hydatid Echinococcus granulosus and occurs in the liver in 55-70% of cases. Cyst hydatid treatment can be performed in three ways: primary surgery, medical and PAIR (Puncture Aspiration Injection Reaspiration) treatment. Medical treatment can be applied with PAIR in order to decrease post-surgery recurrence and facilitate the treatment in repeating cases. The most commonly used agent in medical treatment is albendazole. The most common albendazole-induced side effect is elevated levels of liver enzymes. It rarely causes bone marrow toxic consequences. We present herein a case with albendazole-induced leukopenia and thrombocytopenia, which to our knowledge has never been reported in the literature.

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Sivas kökenli anormal hemoglobini olan bir çocuða moleküler analizle Homozigot Hb Q-Iran (α1 75(EF4) Asp-His tanýsý konulmuþtur.

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.

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Hb D-Ouled Rabah [beta19(B1)Asn>Lys] Cezayirdeki Tuareg kabilelerinde bildirilen nadir bir hemoglobin varyantýdýr. Her ne kadar Çinde de bir olgu bildirilmiþ olsa dab u hemoglobin varyantýnýn sadece Berberce konuþan toplumlarda bulunabileceði konusunda bir görüþ bulunmaktadýr. Bu çalýþmada Hb D-Ouled Rabah [beta19(B1)Asn>Lys] Türkiye'de ilk kez bildirilmektedir.

Hb D-Ouled Rabah [beta19(B1)Asn>Lys] is a rare hemoglobin (Hb) beta chain variant reported from Tuareg tribes in Algeria and once from China. It was suggested that Hb D-Ouled Rabah might be specific of Berber-speaking populations. Our report describes the first observation of this hemoglobin variant in the Turkish population.

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