Hemoglobin (Hb) Sabine is an unstable Hb variant that causes hemolytic anemia in heterozygous state, with inclusion bodies in the red blood cells (RBC). This hemoglobin is the result of a point mutation at codon 91(CTG)(CCG) of the beta-globin gene. We report, for the first time in South America, the identification of Hb Sabine in a nine-month-old female baby, referred to our laboratory bearing a severe hemolytic anemia. We emphasize the need for the correct characterization of this unstable hemoglobin mainly for therapeutic purposes and for genetic counseling.

We present an application of wavelet-based Information Theory quantifiers (Normalized Total Shannon Entropy, MPR-Statistical Complexity and Entropy-Complexity plane) on red blood cells membrane viscoelasticity characterization. These quantifiers exhibit important localization advantages provided by the Wavelet Theory. The present approach produces a clear characterization of this dynamical system, finding out an evident manifestation of a random process on the red cell samples of healthy individuals, and its sharp reduction of randomness on analyzing a human haematological disease, such as β-thalassaemia minor.

We report a rare a1 globin gene variant (Hb Interlaken) found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT) causing a Gly → Asp amino acid substitution and also known as Hb J Oxford, was found in combination with the common thalassemia trait cd 39 (C→T). The clinical picture of the patient was that of a b-thalassemia trait. This work is licensed under a Creative Commons Attribution 3.0 License (by-nc 3.0). ©Copyright I.M. Bragós et al.

5093 Introduction: G6PD deficiency is a frequent worldwide enzymopathy, with sex-linked inheritance, the gene that codifies the enzyme localizes at the X chromosome. Males are hemizygous (Hem) for disease, while women are heterozygous (Het), i.e. carriers, and very rarely homozygous, or double heterozygous and consequently, develop disease. There are over 120 deficient molecular variants observed in Afro-Americans and in the malaria endemic region of the Mediterranean Basin. In previous studies in Argentina we have reported a low prevalence, 0,2-0,3 %, although the predominant molecular variants are unknown. Most of deficiencies are clinically detected when the patient is submitted to oxidative stress produced by infections, therapeutic drugs, or Vicia fava ingestion, develops an acute hemolytic anemia (AHA) of variable severity. Materials and Methods: Two male patients and their families were studied. 1) A1: 45y aged male, with AHA after bean ingestion, as well as the following relatives: mother (M1); sister (S1); three nephews (N1, N2, N3) and a niece (N4) without positive AHA history. 2) A2: 55y aged male, with two AHA episodes in childhood and adolescence, one of them associated with an infection, and the mother (M2). The evaluation clinical and hematological of the patients were normal Laboratory assays: Hemogram, Hemoglobin (Hb) (Coulter AcT10); Reticulocytes (Ret); Brewer test (B.T.); Heinz bodies (HB); Cytochemical method modified (Gurbuz, N; et al): NV: 86,8 % positive cells (CYT); Enzymatic activity (EA) Kinetic Method (Beutler-OMS): NV: 8.0±1.6 G6PD/gHb IU and Polymerase Chain Reaction with Enzyme Restriction (PCR-ER) for characterization of different variants: G6PDMed(563G□T), G6PD A376(A□G), G6PD A376(A□G) 202(G□A); G6PD A 376(A□G) 680 (G□T) y G6PD A 376(A□G) 968 (T□C). Results: Conclusions: The EA confirmed the deficit of probands and nephews N1 and N3 without previous AHA history. The heterozygous character of females was not defined by this method but PCR-ER and CYT mod. supported the obliged carriers heterozygosis and the potential ones, demonstrating that CYT is more sensitive for carrier detection than other screening techniques or EA. The deficient phenotype was correlated with the detected variants, since the Mediterranean G6PD: G6PD Med(563G□T) (Type II, OMS) and G6PD A376(A□G) 202(G□A) (Type III, OMS) are associated with AHA induced by infections or Vicia Fava ingestion. The finding in Argentina of these two variants, that are frequent in the Mediterranean region, it is in accordance with the fact that our population has mainly Italian, Spanish (family 1) and Jewish (family 2) ancestors. The detection of deficient without hemolysis, as well as carriers is of the utmost importance in genetic counseling. Disclosures: No relevant conflicts of interest to declare.

Hemoglobinopathies are the most common recessive diseases worldwide. While the molecular basis of b-thalassemia in Rosario has been addressed, that of α-thalassemia and α structural alterations, has not. In this study 105 individuals from different families referred to our center were investigated for alpha hemoglobinopathies because of low MCV (<85 fL), low MCH (<27dg), normal HbA2 (≤3.5%) and transferrin saturation of >15%. Six of them with a clinical phenotype of thalassemia intermedia were diagnosed as Hb H disease (five cases) and Hb H like (one case). It also included one patient with sickle cell trait, confirmed by hematological and molecular studies. We were able to identify alpha globin genes mutations in 92 individuals (87.6%): 88 patients with alpha thalassemia, 3 patients with structural alterations and one with both. In total, 13 individuals (12.4%) had no identified α-globin mutation. This study is the first to deal with the molecular basis of α-hemoglobinophaties in Rosario.