摘要:

Computerized, semiquantitative image analysis of 2913 erythrocytes from 29 young patients with sickle cell anemia and its variants was conducted utilizing a modified method for determination of fetal hemoglobin distribution by an acid elution procedure. Histograms of eight arbitrary levels of staining intensity, proportional to fetal hemoglobin levels, were analyzed in relationship to both computer-generated, mathematical parameters of erythrocytic shape abnormalies and clinical parameters of disease severity. Shifts in fetal hemoglobin distribution were observed in analysis of sequential specimens. An inverse correlation was observed between angularity of erythrocytes and their individual fetal hemoglobin content (p⩽0.05). A positive correlation was noted between growth percentiles and percentage erythrocyte ghosts by acid elution (p⩽0.01).

ISSN:0363-0269    

DOI:10.3109/03630267809005342

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

A second instance of the unstable mutant Hb Nottingham (α;2β;2(FG5) 98 Val→Gly) is reported in a 7-year-old boy. Because of splenomegaly, cholelithiasis, and frequent episodes of abdominal pain, he underwent a splenectomy and cholecystectomy at age 6. The surgery resulted in both an amelioration of his RBC destruction and an acceleration of his rate of growth.Biosynthetic studies were carried out using reticulocytes obtained from his peripheral blood. These analyses disclosed an exceedingly high specific activity ratio for Hb N/Hb A. In addition as the incubation proceeded, more radioactivity accumulated in theα; chain fraction than in theβ; chains (β;A+β;N). This observation is presumed secondary to degradation of the unstableβ;Nchains.

ISSN:0363-0269    

DOI:10.3109/03630267809005343

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

In this study the clinical and hematological characteristics, the transmission pattern and the relative rates of globin chain synthesis were determined in the members of four Sardinian families with 14 patients affected by hemoglobin H disease. The severity of hemoglobin H disease in Sardinian subjects shows a high degree of variability. Clinically it usually appears intermediate between the hemoglobin H disease found in Oriental and Negro populations. Theα;/β; specific activity ratio was 0.42±0.10 indicating an analogous biochemical defect like that described in the Chinese. On the basis of the hematological data andα;/β; ratio, the genetics of hemoglobin H disease in Sardinians seems to follow a pattern similar to that observed in Orientals: one parent showingα;-thalassemia-1 trait and the otherα;-thalas-semia-2 trait. Parent offspring transmission of hemoglobin H disease did occur in 2 out of 6 hemoglobin H matings with spouses carrying theα;-thalassemia-l gene. This observation indicates either a high frequency ofα;-thalassemia trait in Sardinians or a high incidence of inbreeding. In one family the mating of a patient with hemoglobin H disease and a normal person produces 6/6 offspring withα;-thalassemia-1. The genetic implications of this transmission pattern are discussed.

ISSN:0363-0269    

DOI:10.3109/03630267809005344

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

The amino acid sequences-of the hemoqlobinα;- andβ;-chains of raccoon have been determined by a combination of manual and automatic sequencing procedures. The raccoonβ;-chain shows 16 amino acid differences from that of dog. Theα;-chain shows 10 differences. These values are identical with those predicted by analogy from their tryptic peptide compositions.

ISSN:0363-0269    

DOI:10.3109/03630267809005345

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

The two major hemoglobins found in domestic cat blood occur within the same erythrocyte. A putative asymmetrical hybrid,α2βAβB, is shown to be present in the cell by isolectric focusing.

ISSN:0363-0269    

DOI:10.3109/03630267809005346

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

The first example of hemoglobin Suresnes,α2141 (HC3) Arg→Hisβ2, has recently been reported by Poyart et al (1). Hb Suresnes was detected by electrophoresis in a 6 year old boy who was found by routine hematological examination to have an abnormal RBC count and Hb concentration. The propositus and the two other members of the family who also had the variant did not show any clinical symptoms.

ISSN:0363-0269    

DOI:10.3109/03630267809005347

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

α-Thalassemia is associated with a defect in the production of theα-globin chains of hemoglobin. There are four common varieties in decreasing order of severity: the hemoglobin (Hb) Bart's (γ4) hydrops fetalis syndrome, hemoglobin H disease,“severe”heterozygousα-thalassemia orα-thal-1 trait and“mild”heterozygousα-thalassemia orα-thal-2 trait (1) and there is now evidence that these may be the result of deletion of 4, 3, 2, and 1 respectively of theα-globin structural genes (2, 3, 4). As a result of defectiveα-globin chain production, the umbilical cord blood of infants with Hb Bart's hydrops fetalis contains from 80 to 90 per cent Hb Bart's (1) and those with Hb H disease, about 26 per cent (5). In newborn infants withα-thalassemia trait, lesser amounts of Hb Bart's have been found (5, 6, 7, 8). Observations in Thailand suggest that they fall into two groups, those with about 5 per cent Hb Bart's and others with from 1-2 per cent (9). The former were designated to haveα-thal-1 trait and the latter theα-thal-2 trait. However, there is uncertainty as to whether a clear-cut division between these two groups of infants can be made on this basis (1) and in the present study we have been unable to find a bi-modal distribution of Hb Bart's levels in the cord blood of Chinese infants withα-thalassemia trait.

ISSN:0363-0269    

DOI:10.3109/03630267809005348

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

摘要:

In a previous communication in this journal one of us (THJH) discussed evidence indicating that the simultaneous presence of anα-chain deficiency (α-thalassemia-2) and a heterozygosity for theβchain variant Hb S or Hb C results in a decreased production of the abnormal hemoglobin (1). It was shown that the level of Hb S in Hb S heterozygotes is decreased to less than 30% when anα-thalassemia-2 homozygosity (indicated by the -α/-α;βA/βSgenic arrangement) is also present, that this level varies between 30 and 40% if anα-thalassemia-2 heterozygosity (the -α/αα;βA/βSgenic arrangement) is present, and that the level is more than 40% but less than 50% if fourαchain structural genes are active. Data from several studies (reviewed in 1, 2, and 3) have suggested some 2 to 5% Hb Bart's (orγ4) is present in the blood of Black newborn with a homozygosity forα-thalassemia-2 (irrespective of aβchain variant being present), less than 2% Hb Bart's in Black newborn with anα-thalassemia-2 heterozygosity, and no detectable amount of Hb Bart's in newborn with four activeαchain genes.

ISSN:0363-0269    

DOI:10.3109/03630267809005349

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor

ISSN:0363-0269    

DOI:10.3109/03630267809005350

出版商:Taylor&Francis    

年代:1978

数据来源: Taylor