1/8. Haemoglobinopathy in pregnancy: diagnosis and treatment.Haemoglobinopathies differ in geographic prevalence but together are amongst the most common genetic disorders worldwide. Despite huge diagnostic progress, therapeutic options remain limited, with many treatments still at the experimental stage, no more so than in pregnancy: not only does the presence of a fetus subject treatments to greater limitations, but also any worsening of the anaemia as pregnancy progresses results in higher fetomaternal morbidity and mortality. Anaemia weakens the response to peripartum blood loss, with the risk of postpartum complications. Until recently the standard conventional therapy for severe anaemia was (repeated) blood transfusion, with its well-known risks. Recombinant human erythropoietin (rhEPO) can induce fetal haemoglobin and is a safer, if less immediately effective, alternative for the correction of anaemia in pregnant patients with haemoglobinopathy.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/8. Molecular and hematological characterization of hemoglobin hope/hemoglobin e and hemoglobin hope/alpha-thalassemia 2 in Thai patients.We report the hematological and molecular characterization of compound heterozygosity for hemoglobin (Hb) hope/Hb E and double heterozygosity for Hb hope/ alpha-thalassemia 2 found in 2 unrelated Thai individuals. The first proband presented with slight anemia and mild hypochromic microcytosis. Routine cellulose acetate Hb electrophoresis at pH 8.6 revealed in addition to Hb E another variant migrating slightly more anodic to Hb A. On cation exchange high-pressure liquid chromatography, the variant was eluted in the amount of 60.9% after Hb E The same abnormal Hb was found in a second family in which the proband and her younger sister were both double heterozygotes for this Hb variant and deletional alpha-thalassemia 2, whereas an older sister was a pure carrier of the variant. The amounts of this variant were found to be 34.9%, 35.4%, and 38.3% in the proband, her younger sister, and her older sister, respectively. Direct dna sequencing of the amplified beta-globin genes of both probands identified the GGT (Gly)-GAT (Asp) mutation at codon 136 corresponding to Hb hope. beta-Globin gene haplotype analysis demonstrated that all the Thai betaHope genes were associated with the same haplotype, ( - - - - ), indicating a single origin of this variant in thailand. A simple method based on allele-specific polymerase chain reaction for accurate diagnosis of the Hb hope is described.- - - - - - - - - - ranking = 106.53452851095keywords = hypochromic (Clic here for more details about this article) |
3/8. Ischaemic necrosis of the ilium complicating haemolytic anaemia due to an unstable haemoglobin.A case of ischaemic necrosis of bone (INB) affecting the right hemipelvis in a 57 year old woman with an unstable haemoglobinopathy is presented. The rarity of INB in this site, the usefulness of nuclear scanning, and the relation between haemolytic anaemia and INB are discussed.- - - - - - - - - - ranking = 1.6666666666667keywords = anaemia (Clic here for more details about this article) |
4/8. hemoglobin e: another cause of microcytic anemia in north america.The influx of Southeast Asians has expanded the differential diagnosis of microcytic, hypochromic anemia in this country. We describe four patients with hemoglobin e, all of whom had microcytic, hypochromic anemia. hemoglobin e is benign in both the heterozygous and homozygous states. On routine hemoglobin electrophoresis at pH 8.4, hemoglobin e will migrate near the hemoglobin c and hemoglobin a2 regions. If hemoglobin e is suspected, the laboratory should be advised to do electrophoresis on citrate agar at pH 6.3.- - - - - - - - - - ranking = 213.0690570219keywords = hypochromic (Clic here for more details about this article) |
5/8. Acquired haemoglobin H disease, complicating a myeloproliferative syndrome: a case report.A case of acquired haemoglobin H disease in association with a myeloproliferative disorder is described. Severe haemolysis with hypochromic microcytic anaemia was present. Haemoglobin H formed 18% of the circulating haemoglobin and 60% of the red cells showed multiple inclusions on incubation with brilliant cresyl blue. Blood film and absolute red cell values from a previous unrelated illness were normal, proving the acquired nature of the haemoglobin abnormality. Alpha/beta chain synthesis was measured in vitro and the degree of imbalance (alpha/beta ratio 0.39) was similar to that seen in the inborn thalassaemic disorder. A small proportion of red cells showed i-antigen reactivity but their haemoglobin H content was no different from the majority of cells which were l-antigen positive.- - - - - - - - - - ranking = 106.86786184428keywords = hypochromic, anaemia (Clic here for more details about this article) |
6/8. Atypical HbH disease in a Surinamese patient resulting from a combination of the -SEA and -alpha 3.7 deletions with HbC heterozygosity.The first case of haemoglobin H (HbH) disease in combination with haemoglobin C (HbC) is reported in a man of Surinamese origin. Only haemoglobin A (HbA) and HbC were detected by electrophoresis. The amount of HbC was much less than expected in HbC heterozygotes. The synthesis ratio (beta A beta C/alpha) indicated an alpha-thalassaemia defect with two non-functional alpha genes, which did not correlate with the degree of haemolysis and anaemia displayed by the patient. The dna analysis of the alpha-genes clusters revealed a defect combination -SEA/-alpha 3.7. The haematological data and the physiopathology of this atypical case are compared with the typical HbH disease found in a first cousin of the propositus. Data on the globin chains expression and on the formation of beta A and beta C homotetramers in HbH/HbC disease are presented.- - - - - - - - - - ranking = 0.33333333333333keywords = anaemia (Clic here for more details about this article) |
7/8. Compensatory mechanisms for the severe anaemia caused by haemoglobin Hammersmith.A severely anaemic, but asymptomatic patient, who is a heterozygous carrier of haemoglobin Hammersmith (beta42 (CD1) phenylalanine - serine), has been studied to elucidate the mechanisms resulting in physiological compensation for the anaemia. Four factors have been investigated: the oxygen affinity of her blood, the cardiac output at rest and during exercise, the blood gas indices, and pulmonary function. It was found that due to the presence of heinz bodies within the erythrocytes, the level of functional, haemoglobin was considerably less (50 g/l) than that measured by standard methods (87 g/l). In addition a moderate degree of arterial hypoxaemia (arterial oxygen tension = 10.7 kPa (80.4 mmHg) was present which could not be explained on the basis of abnormal pulmonary function. Both of these factors would result in tissue hypoxia, but the finding of consistently normal oxygen tensions ('mixed' venous oxygen tension = 5.4 kPa (40.3 mmHg) in blood obtained from the right atrium, suggested that hypoxia was not present. This was explained by a decreased whole blood oxygen affinity (P50 = 4.6 kPa (34.5 mmHg) at pH 7.4) and an increase in the cardiac index (5.3 L.min.-1m-2). The latter was the result of an increased stroke volume (125 - 135 ml), the heart rate being normal (63/min.). During moderate exercise, further increases at cardiac output were brought about by a change in heart rate alone. It has been calculated that the decrease in whole blood oxygen per se could not account for adequate tissue oxygenation. This is confirmed by the finding of an increased cardiac output in this patient. It is suggested that in any severe haemolytic anaemia, even if the whole blood oxygen affinity is low, cardiac output is probably increased to achieve complete physiological compensation.- - - - - - - - - - ranking = 2keywords = anaemia (Clic here for more details about this article) |
8/8. A kindred with hemoglobin Lepore.Four members from three generations of a family of Italian descent were found to have hemoglobin (Hb) Lepore trait. The four affected members were only slightly anemic, yet had definite hypochromic and microcytic red blood cells (RBC). electrophoresis of hemoglobin demonstrated an abnormal non-sickling hemoglobin of 11% to 14% concentration that migrated like Hb S at alkaline pH. Amino acid analysis confirmed the identity of the abnormal component as Hb Lepore; the non-alpha chain was a fused delta-beta-chain with a crossover between residues 87 and 116. Hemoglobin Lepore trait should be considered in any patients with clinical and laboratory findings consistent with beta-thalassemia trait and with a 10% to 15% concentration of an abnormal nonsickling hemoglobin that migrates like Hb S.- - - - - - - - - - ranking = 106.53452851095keywords = hypochromic (Clic here for more details about this article) |