β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major

The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3’ UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs

COVID-19 infection in children with cancer and stem cell transplant recipients in Turkey: A nationwide study

Aksoy, Basak Adakli/0000-0001-8338-2101; Ozdemir, Nihal/0000-0002-3204-4353WOS:000614296900001PubMed: 33538100[No Abstract Available

Primary immunodeficiencies: HSCT experiences of a single center in Turkey.

Background Primary immunodeficiency diseases (PID) are characterized by the occurrence of frequent infections and are caused by many genetic defects. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for the majority of PID. As a Pediatric Hematology-Oncology-Immunology Transplantation Unit, we wanted to present our HSCT experience regarding treatment of primary immunodeficiency diseases

Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature.

Purpose Autosomal recessive (AR) CARD9 deficiency is an inherited immune disorder which results in impaired innate immunity against various fungi. Superficial and invasive fungal infections, mainly caused by Candida or Trichophyton species, are the hallmark of CARD9 deficiency. Together with the increasing number of CARD9-deficient patients reported, different pathogenic fungal species have been described such as Phialophora, Exophiala, Corynespora, Aureobasidium, and Ochroconis. Saprochaete capitata is an opportunistic infectious agent in immunocompromised patients and is a common cause of invasive fungal disease in patients with hematological malignancies. In this study, we investigated the causative genetic defect in a patient with S. capitata fungal infection which disseminated to lymph nodes and common bile duct. Methods The identification of the isolated yeast strain was made by direct microscopic examination and confirmed by internal transcribed spacer (ITS) sequencing. We applied whole exome sequencing to search for the disease-causing mutation. Sanger sequencing was used to validate the mutation in the patient and his parents. Results S. capitata was isolated from the biopsy specimen as the causative microorganism responsible for the invasive fungal disease in the patient. Whole exome sequencing revealed a homozygous c.883C > T, (p.Q295*) mutation in CARD9, confirmed by Sanger sequencing. Conclusions This is the first report of invasive Saprochaete infection associated with autosomal recessive (AR) CARD9 deficiency in the literature and thereby further extends the spectrum of fungal diseases seen in these patients

Primary immunodeficiencies: HSCT experiences of a single center in Turkey

Background Primary immunodeficiency diseases (PID) are characterized by the occurrence of frequent infections and are caused by many genetic defects. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for the majority of PID. As a Pediatric Hematology-Oncology-Immunology Transplantation Unit, we wanted to present our HSCT experience regarding treatment of primary immunodeficiency diseases

Clinical and laboratory data of primary hemophagocytic lymphohistiocytosis: A retrospective review of the Turkish Histiocyte Study Group

WOS: 000286303200005PubMed ID: 27263739Objective: This study analyzes the clinical and laboratory findings of children with primary hemophagocytic lymphohistiocytosis (HLH) followed in various referral centers of Turkey. Materials and Methods: A simple three-page questionnaire prepared by the Turkish Histiocyte Study Group was used for documentation of patient data. Results: Age at diagnosis varied from 0.6 to 78 months (median +/- SD, 16.5 +/- 26.1). Sex distribution was almost equal (F/M= 10/12). The frequencies of parental consanguinity and sibling death in the family history were 100% and 81.1%, respectively. The most common clinical findings were hepatomegaly (100%) and fever (95%). The most common laboratory findings were anemia (100%), hyperferritinemia (100%) and thrombocytopenia (90.9%). Triglyceride and total bilirubin levels in the deceased versus surviving group appear to be high (triglyceride: 394 +/- 183 mg/dl, 289 +/- 7 mg/dl; total bilirubin: 2.7 +/- 6.9 mg/dl, 0.5 +/- 1.2 mg/dl, respectively). Conclusion: We concluded that fever, hepatosplenomegaly, anemia, thrombocytopenia, and hyperferritinemia are the most common clinical and laboratory findings in primary HLH. Increased triglyceride and total bilirubin level at the time of diagnosis might be an indicator of poor prognosis in HLH. (Turk J Hematol 2010; 27: 157-62

Rare Coagulation Disorders: A Retrospective Analysis of 156 Patients in Turkey

WOS: 000313935500007PubMed ID: 24744623Objective: To retrospectively evaluate the clinical findings, laboratory data, management, and outcome in a group of Turkish children diagnosed with rare coagulation deficiencies (RCDs) between January 1999 and June 2009. Material and Methods: The Turkish Society of Pediatric Hematology-Hemophilia-Thrombosis-Hemostasis subcommittee designed a Microsoft Excel-based questionnaire for standardized data collection and sent it to participating institutions. Results: In total, 156 patients from 12 pediatric referral centers were included in the study. The cost common RCDs were as follows: FVII (n = 53 [34%]), FY (n = 24 [15.4%]), and FX (n = 23 [14.7%]) deficiency The most common initial finding in the patients was epistaxis, followed by ecchymosis, and gingival bleeding. Conclusion: Initial symptoms were mucosal bleeding, and fresh frozen plasma (FFP) and tranexamic acid were the most commonly used treatments. We think that prophylactic treatment used for hemophilia patients should be considered as an initial therapeutic option for patients with rare factor deficiencies and a severe clinical course, and for those with a factor deficiency that can lead to severe bleeding