摘要:

Hematological and hemoglobin composition data are presented for seven Arabian SS patients with mild disease and with high Hb F levels varying between 21 and 34%. Four patients were homozygous for aβSchromosome with a specific haplotype (#31). The data for these four patients were similar to those for three other SS patients (and for five patients reported earlier, Ref. 2) who were heterozygous for the sameβSchromosome (#31) and for aβSchromosome with another haplotype (mainly #19). These data offer additional evidence indicating that the increasedγchain production is specific for theβSchromosome with haplotype #31. The similarities in hematological data and Hb F levels between these two groups of SS patients and the normal Hb F value in Hb S heterozygotes withβSchromosome (#31) support the suggestion that the increased Hb F production mainly occurs in response to the anemia of the sickle cell disease.

ISSN:0363-0269    

DOI:10.3109/03630268508997037

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Hemoglobin North Chicago,β36 [C2] Pro→Ser is a new high oxygen affinity hemoglobin variant. It was discovered in a 52-year-old male with erythrocytosis since age 20 who had been treated with different regimens for polycythemia vera including several courses of32P. The variant is electrophoretically silent with normal stability and increased oxygen affinity (P5016.6 mm Hg at 37°C., pH 7.4). Characterization of the structure of hemoglobin North Chicago involved the use of HPLC, secondary ion mass spectral analysis of the tryptic peptides and conventional fingerprinting. Hemoglobin North Chicago manifested bizarre hydrophobicity of itsβ-chains, as demonstrated by reverse phase HPLC and Triton X-100 electrophoresis. This behavior is not expected from the substitution of proline to serine. Proline residueβ36 [C2] is one of the invariant residues of theβ-chains of all known mammals and most vertebrates. This residue is involved in theα1β2contacts of hemoglobin molecule and its substitution to serine is possibly associated with conformational changes and alteration of hemoglobin function.

ISSN:0363-0269    

DOI:10.3109/03630268508997038

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

The relative amounts of hemoglobin (Hb) major and Hb minor accumulated during induction of erythrodifferentiation in mouse erythroleukemia (MEL) cells were studied. The ratio of major to minor was found to depend not only upon the inducer tested (as reported previously by others), but also upon the concentration of the inducer and the time of exposure to the inducer as well as the specific cell line of MEL cells studied. At concentrations required for optimal induction of differentiation, certain agents led to the accumulation of predominantly Hb major, but suboptimal concentrations of the same inducers led to predominantly Hb minor accumulation. After a relatively short induction time (2 da) utilizing a given inducer either the level of Hb minor was higher than that of Hb major or the levels of the two Hb's were approximately equal, but after longer induction periods (3-7 da) Hb major was more abundant than Hb minor. In addition, it was found that the three proteases tested induced predominantly Hb minor. The addition of suboptimal concentrations of low molecular weight inducers acted synergistically with a given protease to produce a high yield of Hb-containing cells. When these agents were added singly they induced relatively low Hb major/Hb minor ratios, but when a low molecular weight inducer was added together with a protease in a“synergistic”combination, elevated ratios were induced. The proportions of hemoglobin types induced in MEL cells may be related in part to the intensity of the induction response. In view of these data, classifications of inducers based solely on the ratios of Hb types produced must be guarded.

ISSN:0363-0269    

DOI:10.3109/03630268508997039

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

A new slow-moving variant of hemoglobin(Hb) A2, designated as Hb A2Honai, was found to have an amino acid substitution of valine for glutamic acid at position 90(F6) in theδchain.Hb A2Honai comprised 0.84% of total hemoglobin. Hb A2and Hb A were estimated to be 1.30% and 97.85%, respectively. Hb A2Honai was observed in 4 members of a family in 3 generations. No hematologic abnormalities were associated with Hb A2Honai.

ISSN:0363-0269    

DOI:10.3109/03630268508997040

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Mutants of theαchain commonly are present to the extent of 20-25% of a heterozygote's hemoglobin. A major exception is Hb Fort Worth (α227(β8)Glu→Glyβ2) which was first identified in a Black family by Schneideret al.(1) and has now been reported by Carstairset al.(2) in a second Black family. In all heterozygotes, this variant accounts for only 4-5% of the total hemoglobin. As Carstairset al.note,“The reason for the low quantity of Hb Fort Worth in heterozygotes (4-5%) remains unclear.”Perhaps, in a manner analogous to Hb E, abnormal mRNA processing may be responsible.

ISSN:0363-0269    

DOI:10.3109/03630268508997041

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Seven of 153 abnormal hemoglobins found in the course of surveys of 400,000 Japanese individuals are presumably ofδchain variants [1]. Four of them were found during a survey of 32,569 blood samples in Ehime Prefecture [2]; one has been identified as a new variant, Hb A2Honai orδ90(F6) Glu→Val [3].

ISSN:0363-0269    

DOI:10.3109/03630268508997042

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

An electrophoretically slow-moving hemoglobin (Hb) component was found in the red cell lysate from a Caucasian newborn (#50777) which is characterized by a Trp→Gly substitution at position 37 (C3) of the Aγchain. Since such a replacement has not been observed before, the variant was named F-Cobb after the county of residence.

ISSN:0363-0269    

DOI:10.3109/03630268508997043

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

The testing program of cord blood samples for hemoglobin (Hb) abnormalities, presently conducted in a few centers of Turkish Universities, sometimes detects rare variants which may or may not affect the health of the newborn. One example to be described here is O-Padova which has been observed once before (1). The variant was detected in the blood of a newborn girl by starch gel electrophoresis at pH 9.0 (2); the mobility of the variant (presumablyα2Xγ) was slightly slower than that of Hb C (orα2β26 Glu→Lys) (Fig. 1). Red cell lysates from the father and a 2-year-old brother contained a different Hb component with a mobility distinctly faster than that of Hb A2or of Hb C; a minute quantity of a similar component (presumablyα2X2) was also present in the cord blood red cell lysate of Baby E (Fig. 1). The baby was retested when 40 days old; her hematological values and those of her father and brother were normal (Table I). Quantitation by cation exchange high performance liquid chromatography (HPLC) (3) gave total Hb X values of 15.4% for the baby (Hb X + Hb Fx), 18.3% for the father (Hb X + Hb X2), and 12.8% for the brother (Hb X + Hb X2) (see also Table I).

ISSN:0363-0269    

DOI:10.3109/03630268508997044

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Hemoglobin Savaria, first described in a Hungarian female (1), was found by us in a mother and her daughter during a routine clinical workup. There were no severe clinical problems or functional abnormalities of hemoglobin (Hb) associated with this variant, except for mild hypochromic, microcytic anemia.

ISSN:0363-0269    

DOI:10.3109/03630268508997045

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor

摘要:

Hb Savaria is a slow-moving variant which differs from normal Hb A by the replacement of a serine for an arginine residue at position 49 of theαchain (1,2). It was first discovered in a Hungarian female (1). Recently, a second case of Hb Savaria was observed in a hematologically normal 13-year-old female from Kenya. Here we report another such observation in a 9-year-old male and his mother from Crsatia, Yugoslavia.

ISSN:0363-0269    

DOI:10.3109/03630268508997046

出版商:Taylor&Francis    

年代:1985

数据来源: Taylor