摘要:

Blood erythroid progenitors (BFU-E) from patients with sickle and thalassemic syndromes were compared with those from normal individuals. The day of maximal colony formation in methyl cellulose was slightly later in the cultures from the patients with hemoglobinopathies than in the normal cultures. The number of colonies/100,000 mononuclear cells was similar in all cultures on day 13, but was higher in the hemoglobinopathy cultures on the day of maximal growth. The number of BFU-E/mL of blood was significantly higher than normal at all times in both sickle cell anemia and thalassemia. The proportional synthesis ofγglobin was twice normal in all sickle cultures, and 4 times normal in those fromβ+-thalassemia. Hemin and interleukin-3 increased the numbers of erythroid colonies in all cultures, but did not consistently alter the globin synthesis patterns. Each progenitor population has a unique pattern in terms of time course, number of BFU-E, and level ofγglobin synthesis. These features indicate distinct types of BFU-E, or differences in accessory cells, or both, which distinguish blood-borne erythropoiesis in normals and those with hemoglobinopathies.

ISSN:0363-0269    

DOI:10.3109/03630269208993114

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

We report the clinical, hematological, and molecular findings observed in 32 Sicilian patients with sickle cell disease. None of our patients received regular blood transfusions and careful infectious disease prophylaxis was carried out for all. Haplo-typing ofβs chromosomes was performed in all patients; all were homozygous for haplotype #19 (Benin). Gene mapping excluded the presence of anα-thalassemia in 13 of our patients; none of the relatives showed any evidence of the presence ofα-thalassemia. Hb F levels were 11.8±5.9% with Gγrepresenting 39.6±3.6% of totalγchain. Hb F levels were higher in females than in males (12.5±5.9% versus 9.7±6.5%) but the difference was not statistically significant. All patients, regardless of age and sex, were anemic with normal mean corpuscular hemoglobin concentration, high mean corpuscular volume and mean corpuscular hemoglobin, and mild reticulocytosis. Analysis of clinical manifestations suggests that our patients have a disease of moderate severity.

ISSN:0363-0269    

DOI:10.3109/03630269208993115

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Hb Q-Thailand [α74(EF3)Asp→His] is often found in Thailand, China, and other Southeast Asian countries. Theα-Q-Thailand gene is strongly linked to anαgene deletion and has important implications in the identification and diagnosis of hemoglobinopathies and thalassemias. Theα-Q-Thailand mutation was previously mapped to theα1 gene in a study of Chinese patients. in this paper, a Thai patient with Hb Q-Thailand/Hb H disease and his mother were studied at the DNA level, and the gene organization of Hb Q-Thailand in the Thai patient was found to be the same as that of Chinese patients (i.e. the Hb Q-Thailand gene is located on the a1 gene of chromosome #16, while the -4.2 kb or leftward deletion involves theα2 gene). Also, theGACćcmutation proposed at codon 74, has been confirmed by DNA sequencing and a simple and accurate method for diagnosis of the Hb Q-Thailand variant has been developed based on restriction enzyme analysis. Since theGACĆCmutation generates new cutting sites for both restriction enzymes Apa LI and Hgi AI, polymerase chain reaction amplification of a specific region around codon 74, followed by digestion with these enzymes and agarose gel electrophoresis of the digested products, permits rapid and accurate identification of Hb Q-Thailand.

ISSN:0363-0269    

DOI:10.3109/03630269208993116

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

Two abnormal hemoglobins were accidentally detected by cation exchange high performance liquid chromatography with the Diamat system of Bio-Rad Laboratories; the variants eluted together with the fast-moving Hb A1c. Structural analysis of isolatedβchains and sequence analysis of amplified DNA identified a new variant, i.e. Hb Graz that has a His→Leu replacement at position 2 of theβchain, in four healthy, apparently unrelated, adults. The second variant was identical to Hb Sherwood Forest orα2β2104(G6)Arg→Thr; it is believed that this may be the second observation of this abnormal hemoglobin.

ISSN:0363-0269    

DOI:10.3109/03630269208993117

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

摘要:

In order to clarify the reasons for the reduced Hb A2levels in Sardinianδβ-thalassemia, we characterized, both by cloning and sequence analysis and by direct sequencing of amplified DNA, theδ-globin gene from an individual of Sardinian descent who is a compound heterozygote for theββ-thalassemia codon 39 (C→T) nonsense mutation and the Sardinianδβ-thalassemia [codon 39(C→T)/ -196(C→T)Aγ]. The analysis of theδ-globin gene from theδβ-thal-assemia chromosome revealed an entirely normal sequence. The defective function of theδ-globin gene in this determinant is thus likely related to a suppressive effect of the in cis nondele-tional high persistence of fetal hemoglobin mutation of the Aγgene, probably resulting from an increased capability of the relative promoter to interact with the locus control region.

ISSN:0363-0269    

DOI:10.3109/03630269208993118

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269208993119

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269208993120

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269208993121

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269208993122

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630269208993123

出版商:Taylor&Francis    

年代:1992

数据来源: Taylor