Largest comparison between onset and relapses of acquired thrombotic thrombocytopenic purpura reveals severe neurological involvement and worse analytic parameters at debut.

It has been proposed that the onset of Acquired Thrombotic Thrombocytopenic Purpura (iTTP) is more severe than subsequent relapses; however, existing studies have limitations. We conducted a retrospective observational study to compare analytical and clinical severity of onset and relapse aTTP cases between 2012 and 2023. A total of 370 episodes of aTTP were analyzed, comprising 272 at initial diagnosis and 98 relapses.

Hb Nivaria: A New Hemoglobin Variant with a Shortened -Globin Chain [139(HC1)LysStop; : c.418A>T].

We report a novel hemoglobin (Hb) variant found in a Spanish individual from Santa Cruz de Tenerife, the Canary Islands in Spain. The proband was a 39-year-old male. High performance liquid chromatography (HPLC) displayed an unknown peak (19.

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).

Sickle cell disease associated with thalassemia; description of a rare mutation.

Sickle cell disease (SCD) is a common hemoglobinopathy, secondary to alterations in the β globin chain, resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a wide phenotypical spectrum, and the prevalence of these disorders has significantly changed over the time because of multiple factors such as migration. We report a case of a 17-year-old black male, born in Gambia, diagnosed with sickle cell disease, who presented an associated mutation only described in a Japanese family (Oshima et al.

[Hb Burgos (α1 CD64(E13)(Asp→Asn)): a new hemoglobin variant detected during follow-up of diabetic patients].

Background And Objective: The glycated hemoglobin (HbA1c) test by high performance liquid chromatography is a useful tool for the follow-up of diabetes mellitus patients. Some structural hemoglobin (Hb) variants are known to cause interference in the analytical measurement of HbA1c.

Patients And Methods: In this study, it has been characterized a new Hb variant in 4 patients during their regular control of HbA1c.

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.

[No deletion alpha thalassaemia in Spain. Abnormal hematological index and molecular study].

The alpha thalassaemia diseases in most cases are caused by deletions that affect one or two of the alpha genes, being less frequent the cases due to punctual mutations, insertions or deletions of a few pairs of bases, which have been denominated no deletion a thalassaemias. The objective of this investigation was to determine the incidence of the no deletion alpha thalassaemia in patients with a thalassaemia using molecular biology techniques. We studied 517 individuals of the San Carlos Hospital (Thalassemia Molecular Research Center, Madrid-Spain) between January 2001 and December 2003, in whom iron deficiency anemia had been ruled out, that presented microcytosis and hypochromia and that presented normal HbA2, HbF and EEF from normal Hbs.

Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method.

Objectives: The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c).

Design And Methods: Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies.

[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.