Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Introduction: Congenital dyserythropoietic anemias (CDA) are characterized by hyporegenerative anemia with inadequate reticulocyte values, ineffective erythropoiesis, and hemolysis. Distinctive morphology of bone marrow erythroblasts and identification of causative genes allow classification into 4 types caused by variants in CDAN1, c15orf41, SEC23B, KIF23, and KLF1 genes.

Objective: Identify pathogenic variants in CDA patients.

A case of congenital dyserythropoietic anemia type IV.

Congenital dyserythropoietic anemias (CDAs) are displayed by ineffective erythropoiesis. The wide variety of phenotypes observed in CDA patients makes differential diagnosis difficult; identification of the genetic variants is crucial in clinical management. We report the fifth case of a patient with unclassified CDAs, after genetic study, with CDA type IV.

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

Background: X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow. XLSA is caused by mutations in the erythroid-specific gene coding 5-aminolevulinate synthase (ALAS2). Anemia in XLSA is extremely variable, characteristically microcytic and hypochromic with poikilocytosis, and the red blood cell distribution width is increased and prominent dimorphism of the red cell population.

Red blood cell disorders in recently arrived African immigrants to Gran Canaria, Spain.

Background: In the last decade immigration to Europe has increased, with Africa being the source of a large number of immigrants. In addition to infections, this group has other less known health problems, such as erythrocyte abnormalities.

Methods: The objectives of this study were: the systematic evaluation of red cell abnormalities in 200 newly arrived asymptomatic African immigrants on the Canaries; the systematic evaluation of haemoglobinopathies and their characterization in this population; and the relationship of red blood cell disorders and parasitic infections.

Induction of apoptosis in leukemic cell lines treated with captopril, trandolapril and losartan: a new role in the treatment of leukaemia for these agents.

Renin-angiotensin system (RAS) in the bone marrow is related to proliferation and cellular differentiation. We investigated the effect of ACE inhibitors (ACEI) captopril (>1mM) and trandolapril (>0.05 mM) and losartan (0.

[Molecular characterization of heterozygous beta-thalassemia in Lanzarote, Spain].

Background And Objective: The aim of this study was to determine the molecular defects of heterozygous beta thalassaemia and to ascertain their distribution in Lanzarote.

Patients And Method: Molecular characterization was achieved by real time polymerase chain reaction (RT-PCR LightCycler, Roche), PCR-ARMS (PCR-amplification reaction mutations system) and DNA sequencing on an automated DNA sequencer.

Results: Two hundred forty-three heterozygous beta thalassaemia carriers were included between July 1991 and February 2007.

Relevance of renin expression by real-time PCR in acute myeloid leukemia.

The search for useful molecular markers in the diagnosis of AML and in the follow-up of minimal residual disease (MRD) has been the focus of many recent studies. Previous research showed that, while normal bone marrow cells lack expression of renin, myeloid blasts have been reported to do so. The aim was to study the expression of the renin gene by the use of real-time quantitative PCR (RQ-PCR) at diagnosis in acute myeloid leukemia patients (AML) and to assess its possible relevance in the prognosis and outcome of such patients.