scholarly journals PB2403 ROLE OF HYDROXYUREA IN BETA THALASSEMIA INTERMEDIA

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 1068
Author(s):  
A. Mahesar ◽  
M. Mazari
Keyword(s):  
Beta Thalassemia ◽  
Thalassemia Intermedia

scholarly journals Role of hemichrome binding to erythrocyte membrane in the generation of band-3 alterations in beta-thalassemia intermedia erythrocytes

Blood ◽  
1995 ◽  
Vol 86 (5) ◽  
pp. 2014-2020 ◽  
Author(s):  
F Mannu ◽  
P Arese ◽  
MD Cappellini ◽  
G Fiorelli ◽  
M Cappadoro ◽  
...  
Keyword(s):  
Molecular Weight ◽  
High Molecular Weight ◽  
Band 3 ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Sequence Of Events ◽  
High Molecular Weight Band ◽  
Oxidative Modifications ◽  
Membrane Bound

Nine splenectomized, hematologically well-compensated beta-thalassemia intermedia patients randomly chosen from a pool of 60 similar patients were studied. Membrane proteins solubilized with nondenaturing detergent C12E8 were gel filtered on Sepharose CL-6B (Pharmacia Fine Chemicals, Uppsala, Sweden). Fractions containing higher than 4,000-kD molecular-weight aggregates were isolated and analyzed. Four patients had remarkably increased amounts of membrane-bound hemichromes and Igs. In those patients, band 3 underwent oxidative modifications such as aggregation and a decrease in sulfhydryl groups. The other five patients had low amounts of membrane-bound hemichromes and less modifications of band 3. The same band-3 modifications could be reproduced by challenging normal membranes with artificially generated hemichromes or with hemolysates prepared from thalassemic erythrocytes of the high-hemichrome group. Addition of reduced glutathione to the challenged membranes did not hinder hemichrome binding, but prevented oxidative modifications of band 3 and Ig binding to high-molecular- weight band-3 aggregates. Hemichrome binding to band 3, hemichrome- mediated oxidation of band-3 cytoplasmic domains, generation of high- molecular-weight band-3 aggregates, and enhanced opsonization by anti- band-3 antibodies is a possible sequence of events leading to phagocytic removal of erythrocytes in thalassemia.

scholarly journals Assessment of Iron Overload and Role of Genetic Modifiers in Patients with Beta Thalassemia Intermedia

2019 ◽  
Vol 4 (2) ◽  
pp. S39
Author(s):  
Niteesh Sridhar Bharadwaj ◽  
Richa Jain ◽  
Prateek Bhatia ◽  
Anmol Bhatia ◽  
Reena Das ◽  
...  
Keyword(s):  
Iron Overload ◽  
Beta Thalassemia ◽  
Genetic Modifiers ◽  
Thalassemia Intermedia

scholarly journals beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations

2003 ◽  
Vol 121 (1) ◽  
pp. 28-30
Author(s):  
Sylvia Morais de Sousa ◽  
Letícia Khater ◽  
Luís Antônio Peroni ◽  
Karine Miranda ◽  
Marcelo Jun Murai ◽  
...  
Keyword(s):  
Clinical Course ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Hypochromic Anemia ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Mean Cell Volume ◽  
Molecular Alterations ◽  
Brazilian Patient

CONTEXT: We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs. RESULTS: Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T). CONCLUSIONS: This case represents the first description of 101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.

scholarly journals Beta-thalassemia Intermedia From Two Japanese Families

1977 ◽  
Vol 16 (4) ◽  
pp. 375-382
Author(s):  
Jun SASAKI ◽  
Takashi IMAMURA ◽  
Kiyohide NUNOI ◽  
Katsunori SHIBATA ◽  
Kotaro YAMAOKA ◽  
...  
Keyword(s):  
Beta Thalassemia ◽  
Thalassemia Intermedia

Spinal Cord Compression in Homozygous Beta-Thalassemia Intermedia

1994 ◽  
Vol 20 (3) ◽  
pp. 186-189 ◽  
Author(s):  
E. Cardia ◽  
S. Toscano ◽  
G. La Rosa ◽  
C. Zaccone ◽  
D. d’Avella ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Compression ◽  
Cord Compression ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia

The Molecular Basis of Beta-Thalassemia Intermedia in Egyptian Children and its Association with the Clinical Phenotype

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Iman Ahmed Ragab ◽  
Shereen Mohamed Abd El-Ghany ◽  
Tarek Mostafa Kamal ◽  
Ghada Samir Abd El-Halim Elsayed
Keyword(s):  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Beta Globin ◽  
Thalassemia Intermedia ◽  
Cross Sectional ◽  
Pediatric Hematology ◽  
Egyptian Children ◽  
Degrees Of Severity

Abstract Background β-thalassemia syndromes involve a collection of extremely diverse phenotypes. The term β-thalassemia intermedia (β-TI) was suggested to describe patients who had clinical manifestations that are too severe to be termed minor thalassemia yet too mild to be termed major thalassemia. However, there remains substantial overlap between the three conditions. Aim of the Work To evaluate the variable clinical phenotypes among pediatric patients with βTI and to study the phenotype / genotype correlation with the encountered β-chain mutations. Patients and Methods A cross-sectional study was conducted on 37 Egyptian children and adolescents with TI following up regularly in the Pediatric Hematology clinic – Ain Shams University. Detailed Clinical evaluation and laboratory investigations were done. Reverse hybridization PCR based assay covering beta globin Mediterranean mutations onto specific biotinylated primers, was done. Results IVS 1.6 (T>C) was the most frequent mutation detected in 20 patients and 31 alleles (47.7%), followed by IVS 1.110 (G>A) detected in 7 patients and 8 alleles (12.31%), followed by IVS 1.1 (G>A) and CD27 knossos (G>T), each was detected in 6 patients and 6 alleles (9.23%). β+β+ was the most frequent genotype (54%), followed by β+β/β°β (21.6%) and β°β+ (13.5%). 60% of β°β+ patients had TDT(Transfusion dependent thalassemia), while 87.5% of β + β/β°β patients and 55% of β + β+ patients had NTDT ((Non transfusion dependent thalassemia). Conclusion Inheritance of mild β+ thalassemia mutations among Egyptian children; as IVS 1.6 (T>C) and IVS 1.110 (G>A) is the most frequent contributor to TI phenotype in either homozygous or compound heterozygous states. Patients with the same underlying genotype presented variable phenotypes with different degrees of severity.

Nontransfusional Iron Overload in Thalassemia Intermedia: Role of the Hemochromatosis Allele

Blood ◽  
1998 ◽  
Vol 92 (11) ◽  
pp. 4479-4480 ◽  
Author(s):  
M.D. Cappellini ◽  
S.R. Fargion ◽  
M. Sampietro ◽  
G. Graziadei ◽  
G. Fiorelli
Keyword(s):  
Iron Overload ◽  
Thalassemia Intermedia

scholarly journals Unusual combination and existence of hemolytic anemias; Thalassemia and G6PD deficient anemia in female patient

2018 ◽  
Vol 6 (4) ◽  
pp. 308-314
Author(s):  
Abdulhamza Rajooj Hmood ◽  
Rawaa Hatif Abd
Keyword(s):  
Hemolytic Anemia ◽  
Broad Bean ◽  
Beta Thalassemia ◽  
Thalassemia Intermedia ◽  
Ineffective Erythropoiesis ◽  
Acid Therapy ◽  
First Case ◽  
Unusual Combination ◽  
Appropriate Therapy ◽  
Carrier Diagnosis

Beta-thalassemia intermedia exhibits feature of ineffective erythropoiesis and hemolytic anemia. Diagnosis can be made via hemoglobin electrophoresis. G6PD deficiency is an X-linked recessive disorder commonly affecting males while females are carrier. Diagnosis is made by measuring G6PD level. A 19-year old pregnant lady, known case of β-thalassemia intermedia, had been presented with episode of acute hemolytic anemia. Investigations were highly suggestive of G6PD deficient anemia. This was confirmed with low G6PD level. Back to her immediate history, consumption of broad bean was ascertained. After appropriate therapy, the patient felt better and her medical derangement was normalized. She delivered normally and kept on life-long folic acid therapy. The importance of recording such a case report is to expect unusual combination of hemolytic anemia despite the uncommon finding of X-linked recessive disorder in women. This was the first case recorded in Karbala province

scholarly journals Beta zero-thalassemia in association with a gamma-globin gene quadruplication

Blood ◽  
1986 ◽  
Vol 68 (6) ◽  
pp. 1394-1397
Author(s):  
KG Yang ◽  
JZ Liu ◽  
F Kutlar ◽  
A Kutlar ◽  
C Altay ◽  
...  
Keyword(s):  
Clinical Condition ◽  
Globin Gene ◽  
Normal Chromosome ◽  
Gene Arrangement ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Thalassemia Intermedia ◽  
Gamma Globin ◽  
Alpha Globin

We have studied the hematology, hemoglobin composition, and globin gene arrangements in one young Turkish boy with a beta zero-thalassemia homozygosity and in 11 of his relatives. Evidence is presented that the chromosome with the beta zero-thalassemia determinant carries a gamma- globin gene quadruplication, perhaps in a -G gamma-G gamma-G gamma-A gamma-gene arrangement. The eight gamma-globin genes in this patient produced G gamma and A gamma chains in a 95 to 5 ratio, and nearly 99% of the patient's hemoglobin was of the fetal type. The clinical condition resembled that of a thalassemia intermedia. HbF levels in eight beta-thalassemia heterozygotes varied between 0.5 and 4.2% and the percentages of G gamma in this HbF averaged at 87% or 95%; this level is to some extent related to the haplotype of the normal chromosome. All subjects carried four alpha-globin genes; a new BglII polymorphism was observed within the psi alpha-globin gene.

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