1/25. Thrombotic risk in thalassemic patients.Hemostatic parameters of 495 beta-thalassemic patients (421 with thalassemia major and 74 with thalassemia intermedia) were analyzed, to assess their association with the described thrombophilic condition and to verify the role of additional risk factors (e.g. persistent postsplenectomy thrombocytosis, insulin dependent diabetes mellitus, estrogen-progestin treatment and atrial fibrillation). The prevalence of thromboembolic accidents was 5.2% and in four patients (15.3%) inherited or acquired predisposing defects were recognized. The incidence of thromboembolic events and the associated relative risk due to hemocoagulative abnormalities in these patients are discussed.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
2/25. High-risk pregnancy in beta-thalassemia major women. Report of three cases.Reproductive failure is common in beta-thalassemia major patients because of endocrine damage resulting from iron overload. Here 3 full-term pregnancies following spontaneous ovulation in 2 splenectomized beta-thalassemia major women are reported. The main echocardiographic parameters, such as left ventricular end-diastolic and end-systolic diameters, fractional shortening and ejection fraction, were within the normal range before pregnancy, but worsened during gestation, and 1 patient developed pre-congestive heart failure. deferoxamine therapy was continued throughout 2 pregnancies, while in the other it was stopped after 8 weeks: no abnormalities were noted in the children. Thanks to the currently applied therapies, an increased number of pregnancies may now be expected in beta-thalassemia major women: it is important to find out more about the pregnancy-related problems and their management in these patients.- - - - - - - - - - ranking = 3.5keywords = thalassemia (Clic here for more details about this article) |
3/25. Effective treatment of beta-thalassemia intermedia during pregnancy with rHuEpo. A case report.The anemia of pregnancy in presence of beta-thalassemia intermedia usually aggravates pregnancy procedure. In the present study we investigated whether the administration of recombinant human erythropoietin (rHuEpo) recombinant human erythropoietin in combination with iron and folic acid may ameliorate blood indices as an alternative choice to blood transfusion.- - - - - - - - - - ranking = 2.5keywords = thalassemia (Clic here for more details about this article) |
4/25. Hb Mont Saint Aignan [beta128(H6)Ala-->Pro]: a new unstable variant leading to chronic microcytic anemia.Hb Mont Saint-Aignan [beta128(H6)Ala-->Pro] is a mildly unstable variant, associated with hemolytic anemia, marked microcytosis and increased alpha/beta biosynthetic ratio (1.55 versus 1.1 /- 0.1 in the control). The abnormal chain was isolated by selective precipitation with isopropanol and the structural modification determined by protein chemistry methods (reversed phase high performance liquid chromatography and mass spectrometry). Possible mechanisms underlying the beta( )-thalassemia-like expression of this variant are discussed.- - - - - - - - - - ranking = 0.5keywords = thalassemia (Clic here for more details about this article) |
5/25. Diagnosis of concurrent hemoglobin h disease and heterozygous beta-thalassemia.Definitive diagnosis of concurrent hemoglobin (Hb) H disease and heterozygous beta-thalassemia cannot be made from Hb analysis alone, but necessitates genotype analysis and family study. Interactions between alpha- and beta-thalassemia must be considered when investigating moderate to severe hypochromic microcytic anemia of uncertain cause in adult patients from areas with a high prevalence of globin gene mutations.- - - - - - - - - - ranking = 3keywords = thalassemia (Clic here for more details about this article) |
6/25. Intravenous iron therapy for severe pregnancy anemia with high erythropoietin levels.BACKGROUND: To demonstrate that intravenous (IV) iron therapy rapidly can secure the physiologic correction of severe nonhemorrhagic anemia more safely than blood component therapy and recombinant erythropoietin treatment. CASE: An 18-year-old woman with beta-thalassemia in her 33rd week of gestation had a hemoglobin level of 4.8 g/dL and an erythropoietin value of 191 mU/mL. After IV iron administration, erythropoietin rapidly decreased and hemoglobin increased to 8.1 g/dL in correlation with estriol elevation. A healthy infant with normal hemoglobin and ferritin levels was delivered at 42 weeks by cesarean. CONCLUSION: Intravenous iron administration rapidly corrected severe nonhemorrhagic anemia in a pregnant patient and may produce an improvement in fetal indices. High erythropoietin levels predict a good response to iron and may obviate the need for blood transfusions and recombinant erythropoietin administration, at least until this therapy is tried.- - - - - - - - - - ranking = 0.5keywords = thalassemia (Clic here for more details about this article) |
7/25. The homozygous state of Hb J Sardegna.Hb J Sardegna is a well known innocent Hb variant which is widespread in Sardinia. As yet, homozygosity for Hb J Sardegna has not been documented. This report deals with the homozygous state for Hb J which we demonstrate by molecular analysis in two Sardinian siblings in which beta-thalassemia coexists. The Hb J specific mutation was determined both by enzyme digestion and by sequencing specific segments of PCR amplified alpha-globin genes. A pregnant girl showed mild non-sideropenic microcytic anemia, normal Hb A(2) levels (2.4%) on DE-52 microchromatography, 50% of Hb variant on HPLC and 2.1 alpha/beta globin chain biosynthetic ratio. She proved to be a carrier of the beta degrees 6(-A) thalassemia determinant. The alpha-globin gene mapping did not reveal alpha-thalassemia. Btg I restriction analysis of both alpha(2)-globin genes showed a recognition site defect for this enzyme in both chromosomes, which resulted to be the C-->A point mutation in homozygosity at the first nt of alpha(2)-globin gene 50th codon by sequencing. This defect, typical of Hb J Sardegna, was also present in her brother. From a practical point of view, this study demonstrates that the association of beta-thalassemia with Hb J, may show falsely reduced Hb A(2) levels on routine Hb A(2) quantitation techniques, such as DE-52 microchromatography. This possibility implies that identification methods such as simple Hb electrophoresis, which permit visualization of Hb A(J)(2) should be used in thalassemia screening involving populations in which Hb J and beta-thalassemia coexist.- - - - - - - - - - ranking = 3keywords = thalassemia (Clic here for more details about this article) |
8/25. Failure of microchromatographic measurement of fetal hemoglobin in beta zero thalassemia-hereditary persistence of fetal hemoglobin.We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and beta zero-thalassemia minor. Southern blot technique confirmed heterozygous alpha 2 thalassemia and HPFH but failed to identify the beta thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F1 suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.- - - - - - - - - - ranking = 3keywords = thalassemia (Clic here for more details about this article) |
9/25. Delta 27 homozygosis in a Sicilian family.During a screening program to identify at risk couples for beta-thalassemia first-trimester prenatal diagnosis, we were able to detect, by polymerase chain reaction (PCR) and direct genomic sequencing of the PCR product, a homozygosis for the G-T substitution at the first nucleotide of codon 27 of the delta-globin gene in a pregnant Sicilian woman. The possibility of showing an interaction between delta and beta thalassemia is relevant for a thalassemia prevention program because it may hide a beta-thal carrier state.- - - - - - - - - - ranking = 1.5keywords = thalassemia (Clic here for more details about this article) |
10/25. beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis.We describe a complicated genetic counseling and prenatal diagnostic case involving an East Indian couple that had lost two consecutive pregnancies. Hemoglobinopathy screening was conducted to investigate the possibility of Hb Bart's hydrops fetalis or Hb H hydrops fetalis. The initial work-up indicated that alpha-thalassemia was not a contributing factor, with both parents being carriers of single gene deletions (-alpha(3.7)/alphaalpha). However, the Hb electrophoresis results indicated that the couple might be at risk for having children with Hb E/Hb Lepore disease. Subsequent dna testing demonstrated that the father carried the Hb E mutation, but failed to confirm that the mother carries the Hb Lepore deletion. sequence analysis revealed that the mother was heterozygous for a common East Indian beta(0)-thalassemia mutation, yet had a normal level of Hb A(2). The mother also carried a previously unreported missense mutation of the delta-globin gene, in cis with the beta(0)-thalassemia mutation, which gave rise to the minor Hb variant originally misidentified as Hb Lepore. This case illustrates the importance of comprehensive molecular analyses for accurate assessment of genetic risks for hemoglobinopathy syndromes.- - - - - - - - - - ranking = 3.5keywords = thalassemia (Clic here for more details about this article) |
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