Genetic Testing at Diagnosis Has Prognostic Value in Patients with Chronic Lymphocytic Leukemia including at Early Stages.

Chronic lymphocytic leukemia (CLL) has a variable clinical evolution, with some patients living treatment-free for decades while others require therapy shortly after diagnosis. In a consecutive series of 217 CLL patients, molecular biomarkers with prognostic value (IGHV status, mutations, and cytogenetics), whose analysis is recommended prior to treatment start, were studied at diagnosis. Multivariate analyses identified prognostic variables for overall survival (OS) and time to first treatment (TTFT) and validated the CLL-IPI and IPS-E variables for all or early-stage patients (Rai 0-2/Binet A), respectively.

Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center.

Background And Aims: Hereditary anemia (HA) encloses a wide group of rare inherited disorders with clinical and hematologic overlaps that complicate diagnosis.

Materials And Methods: A 48-gene panel was developed to diagnose HA by Next Generation Sequencing (NGS) in a large cohort of 165 patients from 160 unrelated families.

Results: Patients were divided in: A) patients who had a suspicion of a specific type of HA (n = 109), and B) patients who had a suspicion of HA but with no clear type (n = 56).

Consensus document for the diagnosis and treatment of pyruvate kinase deficiency.

Pyruvate kinase (PK) deficiency is the second most frequent enzymopathy and the most common cause of chronic hereditary non-spherocytic haemolytic anaemia. Its global prevalence is underestimated due to low clinical suspicion of mild cases, associated with difficulties in the performance and interpretation of PK enzymatic activity assays. With the advent of next generation sequencing techniques, a better diagnostic approach is achieved.

Autoimmune haemolytic anaemias: A retrospective study of 93 patients.

Introduction: Autoimmune haemolytic anaemia (AIHA) is an infrequent and heterogeneous disease in its pathophysiology and clinical behaviour, therefore it is generally managed empirically.

Patients And Methods: We conducted an observational, retrospective and multicentre study of 93 patients diagnosed with AHAI in 9 Spanish hospitals between 1987 and 2017, with a median follow-up of 28 months.

Results: Median age of 67 years; 85% AHAI for hot antibodies and 64% primary AHAI.

Phenotype of mutations in the promoter region of the β-globin gene.

Background: β-Thalassaemia is characterised by reduced production of β chains, which decrease can be caused by mutations in the promoter region (CACCC or TATA box), and is classified as mild or silent depending on the extent of β-globin chain reduction. In both cases, homozygotes or compound heterozygotes for these mutations usually have thalassaemia intermedia. Frequently the diagnosis is made in adulthood or even in old age.

Positive Impact of Eculizumab Therapy on Surgery for Budd-Chiari Syndrome in a Patient with Paroxysmal Nocturnal Hemoglobinuria and a Long-Term History of Thrombosis.

Paroxysmal nocturnal hemoglobinuria (PNH) is associated with severe end-organ damage and a high risk of thrombosis. Budd-Chiari syndrome, which develops after thrombotic occlusion of major hepatic blood vessels, is relatively common in PNH and has been associated with increased mortality. We report the case of a 46-year-old male with PNH who presented with Budd-Chiari syndrome associated with portal cavernoma, portal hypertension and hypersplenism.

Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method.

Hemoglobin A1c (HbA1c) is routinely used to monitor long-term glycemic control and for diagnosing diabetes mellitus. However, hemoglobin (Hb) gene variants/modifications can affect the accuracy of some methods. The potential effect of Hb variants on HbA1c measurements was investigated using a high-performance liquid chromatography (HPLC) method compared with an immunoturbimetric assay.

High resolution melting analysis: a rapid and accurate method to detect CALR mutations.

Background: The recent discovery of CALR mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients without JAK2/MPL mutations has emerged as a relevant finding for the molecular diagnosis of these myeloproliferative neoplasms (MPN). We tested the feasibility of high-resolution melting (HRM) as a screening method for rapid detection of CALR mutations.

Methods: CALR was studied in wild-type JAK2/MPL patients including 34 ET, 21 persistent thrombocytosis suggestive of MPN and 98 suspected secondary thrombocytosis.

Origin of the frameshift codons 41/42 (-TCTT) mutation in the first cases described in the Spanish population.

Thalassemias are hereditary anemias. In beta-thalassemia (beta-thal), beta-globin synthesis is either deficient or absent. A high incidence of beta-thal is found in populations of Mediterranean and African origin.

[Hemoglobin Stanleyville II [alpha78(EF7)Asn --> Lys]. First case described in Spain].

Background And Objective: Structural hemoglobinopathies are the result of mutations in the genes of globin, which determine a qualitative alteration in the expression of these genes. Most alterations do not originate any significant change, and correspond to silent or asymptomatic forms. This study proves a new case of hemoglobin (Hb) Stanleyville II.

Renin expression in hematological malignancies and its role in the regulation of hematopoiesis.

It has been demonstrated that some myeloid blasts express renin, but normal bone marrow (BM) does not display this expression. The aim of the present work was to analyze the renin expression in different hematological malignancies and different myeloid cell lines. We investigated the expression of renin by RT-PCR in BM from patients with hematological malignancies (106 patients), in nine normal BM from healthy donors and in leukemic cell lines (K562, KU812, MEG-01, U-937 and HL60), as well in K562 cell line subjected to differentiation treatments.