β-Globin chain abnormalities with coexisting α-thalassemia mutations.

Introduction: The frequency of hemoglobinopathies is still high in Adana, the biggest city of the Cukurova Region that is located in the southern part of Turkey. Our aim was to identify the concomitant mutations in α- and β-globin genes which lead to complex hemoglobinopathies and to establish an appropriate plan of action for each subject, particularly when prenatal diagnosis is necessary.

Material And Methods: We studied the association between the β-globin gene and α-thalassemia genotypes.

β-Thalassemia mutations and hemoglobinopathies in Adana, Turkey: results from a single center study.

Introduction: β-Thalassemia and hemoglobinopathies are common genetic disorders in Turkey and in this retrospective study our aim was to determine the frequency of β-thalassemia and hemoglobinopathies in Adana, which is one of the biggest cities located in the southern part of Turkey.

Material And Methods: Data from 3000 individuals admitted to Seyhan Hereditary Blood Disorders Center in Adana were evaluated. The blood samples were collected into EDTA-containing tubes and hematological parameters were analyzed using an automatic cell counter.

Nonsense β-thalassemia mutation at codon 37 (TGG>TGA), detected for the first time in three Turkish cases.

Thalassemias are genetically heterogeneous group of disorders with reduced or absent production of globin. β-Thalassemia major can be caused by homozygosity or compound heterozygosity for β-globin gene mutation. Here we report, for the first time in Turkey, three cases who carry the nonsense β-thalassemia (β-thal) mutation at codon 37 (TGG>TGA; Trp→Stop) causing premature stop codon.

Tissue doppler imaging and NT-proBNP levels show the early impairment of ventricular function in patients with beta-thalassaemia major.

Beta-thalassaemia major is a chronic haemolytic anaemia, and congestive heart failure (CHF) is the most common cause of death in this disease. N terminal pro B type natriuretic peptide (NT-proBNP) increases with the severity of CHF and predicts the prognosis. The aim of this study was to investigate the relation between left ventricular systolic and diastolic function determined by standard pulsed wave Doppler (PWD), tissue Doppler imaging (TDI) and NT-proBNP in patients with beta-thalassaemia major.

Clinical significance of hepatocyte growth factor, platelet-derived growth factor-AB, and transforming growth factor-alpha in bone marrow and peripheral blood of patients with multiple myeloma.

Angiogenesis is a process that plays an important role in the growth and progression of cancer; growing evidence suggests that neovascularization is important in hematologic malignancies. Increased angiogenic potential has been identified in multiple myeloma (MM). In this study, investigators simultaneously measured the levels of hepatocyte growth factor (HGF), platelet-derived growth factor-AB (PDGFAB), and transforming growth factor-alpha (TGF-alpha) through enzyme-linked immunosorbent assay in the bone marrow (BM) and peripheral blood (PB) of 30 patients with MM and 10 healthy controls.

Renal vascular resistance in sickle cell painful crisis.

Vaso-occlusive painful crisis is one of the characteristic manifestations of sickle cell disease (SCD). We aimed to investigate the state of renal vascular resistance by means of Doppler ultrasonography during vaso-occlusive painful crisis in patients with SCD. The 60 patients with homozygous SCD who entered the study were divided into 2 groups.

Sickle cell anemia patient with sarcoidosis-associated inguinal lymph node and lung infiltration.

Sarcoidosis is a chronic, systemic inflammatory disease of unknown etiology, characterized by noncaseating granulomatous infiltration of any organ. Sickle cell anemia (SCA) is the homozygoid form of sickle cell disease (SCD), which includes a group of genetic disorders characterized by production of an abnormal hemoglobin S (HbS). There are a few case reports with coexistence of sarcoidosis and SCA.

Budd-Chiari syndrome associated with visceral leishmaniasis and factor V Leiden mutation.

We here report a case of subacute Budd-Chiari syndrome (BCS) related to Factor V Leiden (FVL) mutation in the presence of visceral leishmaniasis. A 17-year-old man was admitted to hospital because of abdominal pain, pretibial edema and fever. The clinical picture of BCS had been developed within several months.

Plasmapheresis in the treatment of hyperthyroidism associated with agranulocytosis: A case report.

Plasmapheresis, also known as therapeutic plasma exchange, is used in the treatment of several disorders. Temporary improvement after plasmapheresis in cases with thyrotoxicosis has been reported. A 55-year-old woman presented with agranulocytosis induced by propylthiouracil and clinical signs of heart failure.

Systemic lupus erythematosus and thrombotic thrombocytopenic purpura: a case report.

Background: Thrombotic thrombocytopenic purpura (TTP) is a multisystem disorder characterised by platelet aggregation causing microvascular occlusion. Early diagnosis and utilization of plasmapheresis can provide an improvement in prognosis.

Case Report: A 17 year old male with classical findings of TTP was later diagnosed as systemic lupus erythematosus (SLE).

Anti-D and Intravenous Immunoglobulin Treatments in Chronic Idiopathic Thrombocytopenic Purpura.

The aim of this prospective study was to evaluate the data from 29 patients diagnosed as chronic refractory idiopathic thrombocytopenic purpura (ITP) treated with anti-D immunoglobulin and intravenous immunoglobulin G (IVIG). We used anti-D and IVIG in 11 and 18 patients respectively in whom the previous treatments including corticosteroids and splenectomy had been unsuccessful. The complete response rates were significantly higher in IVIG arm (55.

Immune thrombocytopenic purpura associated with Brucella and Toxoplasma infections.

Bacterial and protozoal infections can cause thrombocytopenia and may mimic idiopathic thrombocytopenic purpura (ITP). Brucella species and Toxoplasma are among the infectious agents with protean clinical manifestations which may induce immune thrombocytopenia. In rare cases, thrombocytopenia can be severe and may result bleeding into the skin and from mucosal sites.