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[PDF] Top 20 Characterization of molecular hemoglobin c and beta thalassemia

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Characterization of molecular hemoglobin c and beta thalassemia

Characterization of molecular hemoglobin c and beta thalassemia

... The World Health Organization recommends the implementation of programs for prevention and control hemoglobinopathies in Latin America, especially in Brazil (Thomas C and Lothar T, 2002). The organization of a ... See full document

10

One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system

One-step genetic correction of hemoglobin E/beta-thalassemia patient-derived iPSCs by the CRISPR/Cas9 system

... The study was approved by the Siriraj Institutional Re- view Board (no. Si248/2011), in accordance with the Helsinki Declaration of 1975. All patients were provided with an explanation and with a participant information ... See full document

11

Benefits of chronic blood transfusion in hemoglobin E/β thalassemia with pulmonary arterial hypertension

Benefits of chronic blood transfusion in hemoglobin E/β thalassemia with pulmonary arterial hypertension

... The baseline characteristics were compared using exact probability tests for categorical variables; Student’s t-test or Wilcoxon rank-sum test was used to compare the mean dif- ference of continuous variables. Propensity ... See full document

6

Molecular analysis of the beta thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys)

Molecular analysis of the beta thalassemia phenotype associated with inheritance of hemoglobin E (alpha 2 beta2(26)Glu leads to Lys)

... heterozygous beta-thalassemia. Patients with hemoglobin (Hb)E- beta-thalassemia exhibit clinical phenotypes of severe beta-thalassemia, a circumstance not encountered in ... See full document

10

Beta-thalassemia

Beta-thalassemia

... with thalassemia intermedia is symptomatic ...with thalassemia intermedia have a high risk of thrombosis, exacerbated by splenectomy, it is important to be aware of thrombotic ...low molecular weight ... See full document

15

Hemoglobin Indianapolis (beta 112[G14] arginine)  An unstable beta chain variant producing the phenotype of severe beta thalassemia

Hemoglobin Indianapolis (beta 112[G14] arginine) An unstable beta chain variant producing the phenotype of severe beta thalassemia

... labile beta-chain variant, present in such small amounts that it was undetectable by usual ...heterozygous beta-thalassemia, suggested that betaIndianapolis was destroyed so rapidly that its net ... See full document

9

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin

Homozygous delta-beta Thalassemia in a Child: a Rare Cause of Elevated Fetal Hemoglobin

... Delta-beta thalassemia (δβ-thalassemia), a relatively rare form of thalassemia, is characterized by lack of β and δ-globin chain production ... See full document

6

Prediction of Optimum Treatment in Beta-Thalassemia Patients with Hepatitis C Virus Infection

Prediction of Optimum Treatment in Beta-Thalassemia Patients with Hepatitis C Virus Infection

... infected thalassemia patients is safe, tolerable and ...severe hemoglobin drop can be ...severe thalassemia might have denied ribavirin ...severe thalassemia than those who declined to receive ... See full document

12

Globin chain synthesis in the alpha thalassemia syndromes

Globin chain synthesis in the alpha thalassemia syndromes

... alpha thalassemia trait, and the “silent carrier” state were incubated with leucine- 14 C for definition of relative rates of production of alpha and beta chains in these ...and beta peaks ... See full document

9

Hemoglobin Messenger RNA from Human Bone Marrow ISOLATION AND TRANSLATION IN HOMOZYGOUS AND HETEROZYGOUS β THALASSEMIA

Hemoglobin Messenger RNA from Human Bone Marrow ISOLATION AND TRANSLATION IN HOMOZYGOUS AND HETEROZYGOUS β THALASSEMIA

... for beta thalassemia and sickle cell trait, as well as from a patient with normal hemoglobin synthesis but with an elevated reticulocyte count secondary to hereditary ...and beta globin chains ... See full document

12

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

Genotype–phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis

... heterozygous beta-thalassemia patients were in thalassemia ...three beta-thalassemia/HbE patients were classified in 58 thalassemia major and 4 thalassemia intermedia ... See full document

7

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              here  to download PDF version of the article !

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... of hemoglobin are responsible for an extremely complex series of clinical ...and thalassemia can cause chronic ill-health and life-threatening ...of beta- thalassemia trait and fifteen ... See full document

8

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine

Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine

... Analysis of the Gγ-globin gene XmnI SNP showed that three patients were homozygous and one patient was heterozygous for this SNP, three of them have the β 0 /β 0 genotype and one has the β 0 /β + (in addition to –α 3.7 / ... See full document

9

Influence of hemoglobin precipitation on erythrocyte metabolism in alpha and beta thalassemia

Influence of hemoglobin precipitation on erythrocyte metabolism in alpha and beta thalassemia

... Beta thalassemia young cells contained less hemoglobin F and, after splenectomy, more inclusions than old cells. In addition, they had markedly increased glycolysis and HMPS activity. GSH was ... See full document

10

EFFICACY OF HEMOGLOBIN LEVEL IN DIAGNOSING OF BETA THALASSEMIA

EFFICACY OF HEMOGLOBIN LEVEL IN DIAGNOSING OF BETA THALASSEMIA

... β- thalassemia among borderline HbA2 sample of population of ...for thalassemia screening, 405 ...positive molecular results even though the HbA2 level was at only ...as thalassemia carriers ... See full document

5

In Patients with Minor Beta-Thalassemia, Cognitive Performance Is Related to Length of Education, But not to Minor Beta-Thalassemia or Hemoglobin Levels

In Patients with Minor Beta-Thalassemia, Cognitive Performance Is Related to Length of Education, But not to Minor Beta-Thalassemia or Hemoglobin Levels

... minor beta-thalassemia would have higher hemoglobin levels than healthy controls, and this was ...minor beta-thalassemia could be clearly distinguished from healthy controls at a ... See full document

7

Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia

Defect in messenger RNA for human hemoglobin synthesis in beta thalassemia

... homozygous beta thalassemia and sickle cell ...of beta thalassemia messenger RNA, the system synthesized much less beta chain than alpha chain whereas in the presence of sickle cell ... See full document

7

Sickle Cell Beta Thalassemia: A Rare Entity

Sickle Cell Beta Thalassemia: A Rare Entity

... in thalassemia, there is reduction in rate of production of normal Hb due to absent or decreased synthesis of one or more types alpha(α) or beta (β) of globin polypeptide ... See full document

6

JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH

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... This prospective family study is based on nine index cases of sickle cell-beta-thalassemia and seven index cases of hemoglobin-E-beta- thalassemia. They were selected out of 1500 ... See full document

9

Haematological and Genetic Characterization of Thalassemia Intermedia in Tank and South Waziristan Agency of Khyber Pakhtun Khwa

Haematological and Genetic Characterization of Thalassemia Intermedia in Tank and South Waziristan Agency of Khyber Pakhtun Khwa

... of thalassemia intermedia is in range of ...of thalassemia major having the age at diagnosis less than one year [ 14, 15 ] ...of thalassemia intermedia patients were in range of 4 years to 35 ... See full document

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