1/19. Antenatal diagnosis of Bart's hydrops fetalis [correction of homozygous alpha thalassemia]. A case report.OBJECTIVE: diagnosis of the Bart's hydrops fetalis [corrected]. METHOD: Bart's hydrops fetalis [corrected] was discovered by chance in the fetus of a female Chinese patient. Major intrauterine growth retardation, oligohydramnios, an immobile fetus, and cardiomegaly were the principal echographic signs. cordocentesis showed fetal anemia, and electrophoresis of fetal hemoglobin revealed the presence of Bart's hemoglobin. RESULT: As there is no known effective treatment, termination of pregnancy was proposed to the patient. CONCLUSIONS: Bart's hydrops fetallis [corrected] is a lethal condition. Early echographic signs (cardiothoracic index >0.50, placental thickening) can be screened during weeks 17-18 or even during weeks 13-14 of gestation. These signs would permit a reduction of invasive examinations in couples at risk.- - - - - - - - - - ranking = 1keywords = thalassemia (Clic here for more details about this article) |
2/19. Focal neurological deficits in children with beta-thalassemia major.The hematologic disorder beta-thalassemia major is relatively common in Southern italy. stroke is a well described, though infrequently reported, complication of this disorder. We now report our experience regarding 300 children with beta-thalassemia major examined at the University of Catania, italy, over a 20-year period. We encountered 9 patients (3%; 3 males, 6 females) with beta-thalassemia major who had hemorrhagic stroke. Two groups of patients can be identified: group 1 (2 patients 22%) with early-onset post-transfusion hemorrhage and group 2 (7 patients 77%) with delayed post-transfusion hemorrhage. In the first group, the hemorrhage occurred within 48 hours following blood transfusion. In the second group, hemorrhage occurred 7-15 days from last transfusion. In 5 patients out of 7 of this second group the first transfusion and ictal event both occurred after age five, suggesting prolonged chronic anemia might play a role in the hemorrhage.- - - - - - - - - - ranking = 1.75keywords = thalassemia (Clic here for more details about this article) |
3/19. Asymptomatic homozygous deletional beta(0)-thalassemia in an African individual.Homozygosity or compound heterozygosity for beta(0)-thalassemia mutations most commonly results in a transfusion-dependent thalassemia major phenotype. In this report, we describe a 55-year-old male, from guinea-bissau, that had been asymptomatic and never transfused until being admitted to hospital with anemia, fever, splenomegaly, and asthenia. Following hospital admission, hiv-2 and mycobacterium tuberculosis infections were diagnosed, and biochemical and molecular studies revealed homozygosity for beta(0)-thalassemia. At the molecular level, this is the first description of homozygosity for the beta(0)-Black 1,393-bp deletion. In this case, the complete absence of beta-globin gene expression seems to be compensated by an unusually high fetal globin gene expression (Hb F 96%). Beta-globin haplotyping results were compatible with the propositus being homozygous for the Black 2 haplotype and for the absence of the XmnI polymorphism at -158 of (G)gamma-globin gene (-/-). Co-inheritance of genetic factors usually associated with high Hb F levels was not detected. Otherwise, the propositus is a heterozygote for the alpha-globin gene 3.7-kb deletion that is a beneficial modulating factor but not sufficient to explain this extremely mild phenotype. This unusual genotype/phenotype association is discussed in terms of the mechanisms underlying hemoglobin switching during development.- - - - - - - - - - ranking = 1.75keywords = thalassemia (Clic here for more details about this article) |
4/19. 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 = 1.5keywords = thalassemia (Clic here for more details about this article) |
5/19. Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS.A new unstable hemoglobin, Hb Leslie, has been observed in three generations of a georgia family. The propositus, a 42-yr-old black veteran with hemolytic anemia and splenomegaly, has a hemoglobin variant with an electrophoretic mobility similar to that of hemoglobin F. The variant comprises about 85% of the total hemoglobin and was isolated by chromatography. Chemical analysis has identified the abnormality as a deletion of the glutaminyl residue in position 131 (H9) of the beta-chain. Deletion of this critical residue which participates in the alpha1beta1 contact causes decreased stability of the hemoglobin without significant changes in functional properties or morphologic abnormalities in the erythrocyte. family studies revealed hemoglobin Leslie occurring in combination with beta0-thalassemia, HbS, and HbC. All persons with the various Hb Leslie combinations, including the propositus, have no clinical manifestations other than anemia. In some the anemia is fully compensated. There is no history of drug-associated hemolysis.- - - - - - - - - - ranking = 1.25keywords = thalassemia (Clic here for more details about this article) |
6/19. Unstable angina associated with coronary arterial calcification in a thalassemia intermedia patient with a pseudoxanthoma elasticum-like syndrome.The coexistence of a pseudoxanthoma elasticum (PXE)-like syndrome in beta-thalassemia and other hemoglobinopathies is a recently established clinical entity that has been observed with a significant frequency and related to some severe, even life-threatening complications. We present here a thalassemia intermedia patient who developed unstable angina in a setting of severe anemia and PXE-related coronary arterial calcification. Besides the clinical significance of this PXE-like syndrome, its acquired nature may introduce some new thoughts regarding the pathogenesis of atherosclerosis.- - - - - - - - - - ranking = 1.5keywords = thalassemia (Clic here for more details about this article) |
7/19. A rare example that coinheritance of a severe form of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to balance the phenotype of classic thalassemic syndromes.The coinheritance of beta-thalassemia major with the genotype of Hb H disease is extremely rare, with few reported cases. We investigated the hematological, biochemical, biosynthetic, molecular and pathophysiological parameters to evaluate a rare male patient with this compound syndrome. The patient was studied at first diagnosis during hospitalization at 50 years of age and subsequently followed up for more than a year. Examinations included full hematological, biochemical, biosynthetic, molecular, pathophysiological and clinical parameters. Besides standard parameters, we additionally measured reticulocyte hemoglobin content (CHr), erythropoietin (Epo), soluble transferrin receptors (sTfR), oxygen pressure at 50% hemoglobin saturation (P50), 2,3-bisphosphoglycerate (2,3-BPG), total glutathione (GSHt), oxidized glutathione (GSSG), malonyldialdehyde (MDA), nontransferrin-bound iron (NTBI), vitamins A and E. The male patient was first hospitalized for a 2-day period at 50 years of age, following the finding of marked anemia (hematocrit 20%) during a blood test to investigate the cause of fatigue in the absence of weight-loss or other notable symptomatology. He had never been transfused, maintaining Hb 85-95 g/l. Definitive diagnosis was achieved through dna studies, which showed coexistence of beta-thalassemia major (IVSI-6 T > C/IVSI-I G > A) with Hb H disease (-alpha(3.7)/-(Med)). Alpha/non-alpha globin chain biosynthesis was completely balanced. Parameters demonstrated a well-compensated anemia with ineffective erythropoiesis and oxidative stress, which was ameliorated following splenectomy. In conclusion, this case is a remarkable example that the coinheritance of severe forms of beta-thalassemia and alpha-thalassemia interact in a "synergistic" manner to almost complete balance the symptoms of classic thalassemia syndromes.- - - - - - - - - - ranking = 3.25keywords = thalassemia (Clic here for more details about this article) |
8/19. The homozygous state for Hb Crete [beta129 (H7) Ala-->Pro] is associated with a complex phenotype including erythrocytosis and functional anemia.Hb Crete, an electrophoretically neutral, unstable, high oxygen affinity variant, was characterized by protein and dna analyses in the homozygous state in a 32-year-old woman from Crete, with erythrocytosis and microcytosis. The proband and members of her family over 3 generations, including 5 carriers of Hb Crete, were subject to clinical, hematological and biochemical investigations, and dna, rna and protein studies were carried out. The proband demonstrated features associated with disturbed hemoglobin (Hb) structure and function, including erythrocytosis and additionally a state of functional anemia, the latter reflected by increased erythropoetin levels and cardiac output. In addition, all the carriers surprisingly had hematological and biosynthetic findings more usually associated with thalassemia trait. The structural change in Hb Crete only partly explains all the pathological manifestations of this variant, and other mechanisms are discussed.- - - - - - - - - - ranking = 0.25keywords = thalassemia (Clic here for more details about this article) |
9/19. Anesthetic management of a patient with beta-thalassemia intermedia undergoing splenectomy: a case report.A 37-year-old man with beta-thalassemia intermedia (betaTI), a rare disease caused by partial or complete deficiency of beta-globin chain synthesis, fell into a hemolytic crisis. Severe anemia persisted despite frequent transfusions. Therefore, he was scheduled for splenectomy to alleviate the anemia. The preoperative laboratory data showed marked anemia and liver dysfunction. echocardiography revealed hyperkinetic left ventricular motion and increased cardiac index (CI), indicating a compensatory hyperdynamic circulation induced by persistent, severe anemia. Our strategy during general anesthesia was to keep the hyperkinetic cardiovascular system steady. Hence, the hemodynamic parameters including the CI were measured using a Swan-Ganz catheter, and other physiological parameters were monitored perioperatively. Anesthesia was maintained with balanced anesthesia: isoflurane at low concentrations and fentanyl to avoid cardiovascular depression. Throughout the operation, vital signs were kept stable and the lactate/pyruvate ratio was unchanged, indicating that anaerobic metabolism did not increase. We report successful anesthetic management with attention to hemodynamic changes in a patient with betaTI.- - - - - - - - - - ranking = 1.25keywords = thalassemia (Clic here for more details about this article) |
10/19. Dominantly inherited beta thalassaemia intermedia caused by a new single nucleotide deletion in exon 2 of the beta globin gene: Hb morgantown (beta91 CTG>CG).family members in multiple generations of an Irish-American family were investigated for moderate to severe microcytic anaemia, inherited in an autosomal dominant fashion. A novel frameshift mutation of the beta globin gene was discovered. This study highlights the importance of considering dominantly inherited beta thalassemia in the investigation of anaemia, even in patients with ethnic backgrounds not usually associated with beta thalassaemia.- - - - - - - - - - ranking = 0.25keywords = thalassemia (Clic here for more details about this article) |
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