Hemoglobin Phenotypes Research Articles

ESMER, SİYAH-ALACA, SARI-ALACA VE DOĞU ANADOLU KIRMIZISI SIĞIR IRKLARININ BAZI POLİMORFİK KAN (Tf, Hb) GENETİKLERİ ÜZERİNE ARAŞTIRMALAR

OZET : Arastirmada Dogu Anadolu Kirmizisi (D.A.K.), Siyah-Alaca, Sari-Alaca ve Esmer sigir surulerinin transferrin, hemoglobin protein yapilari incelenmistir. Surulerde transferrin (Tf) gen yeri bakimindan 6 allel gen tarafindan belirlenen 15 fenotipin, hemoglobin (Hb) gen yeri bakimindan 2 allel tarafindan belirlenen iki fenotipin tespiti yapilmistir. Arastirmada irklarin kan karekterleri bakimindan cok onemli (P<0.01) derecede farkli genetik yapida olduklari belirlenmistir. GenetIc structure of PolymorphIc Blood TraIts (T f, Hb) of Brown-SwIss, HolsteIn, SImmental and Eastern AnatolIan Red Cattle Breeds SUMMARY : In this study, genetic structures of transferrin and haemoglobin of Brown-Swiss, Holstein, Simmental and East Anatolian Red cattle breeds have been examined. As a result of this study the total 15 transferrin (Tf) phenotypes determined by six Tf alleles and 2 haemoglobin (Hb) phenotypes determined by two Hb alleles with respect to different locus were determined. It has been concluded that the genetic structures of in herent characteristics of all the breeds are significantly (P<0.01) different.

Hemoglobin phenotypes and hematological factors in Leccese sheep

Leccese sheep (996), an Apulian native breed, were studied for the hemoglobin types in association with other hematological, evolutionary and environmental factors. The hypothesis was that different frequencies of HbA and HbB sheep have an adaptive significance. Allelism at α and β loci had five phenotypes, AA, AB, BB, DAB, and DBB, where A and B were the two common alleles at the β locus, whereas D was the α-globin rare variant. The allele β B predominated over β A. There was a relationship between hemoglobin phenotype and both PCV and Hb. In particular, β A seemed to be related to increased values ( P < 0.05), while the rare α D variant seemed to be associated with significantly lower ( P < 0.01) values than the wild-type. Males exibited higher ( P < 0.01) values of PCV and Hb than the females, although the differences were small. When compared to the literature for other breeds, the hematological findings showed that Leccese sheep are characterizd by different erythrocyte numbers and Hb content. It is concluded that the environmental conditions of Apulia, in particular interactions with endemic parasites causing anemias and the arid climate may have selected for sheep HbB due to less blood viscosity and better tolerance of anemia.

A structural and functional polymorphism in the hemoglobin O2 transport system of the blood clam Noetia ponderosa

AbstractA sample of arcid blood clams (Noetia ponderosa) from the Atlantic coast of Virginia had red blood cells containing a hemoglobin composed of only one electrophoretically separable component. Both the red blood cells and hemoglobin extracts had a moderately high oxygen affinity. A sample from the Gulf of Mexico had red blood cells containing hemoglobins composed of two components. According to previous reports, this population contains a homodimer of one chain and a heterodimer of that chain plus another. Both the red blood cells and the hemoglobin extracts had a much lower oxygen affinity. Thus, in this species, the O2 carrier is qualitatively (and, according to the previous report, quantitatively) polymorphic, and the polymorphism is reflected in respiratory properties as well as quaternary structure. The origin of the different hemoglobin phenotypes, however, is not yet clear. © 1993 Wiley‐Liss, Inc.

Haemoglobin and blood group (ABO and rhesus) phenotypes in tuberculosis patients of the Sudan savanna of Nigeria.

Haemoglobin and blood group (ABO and rhesus) phenotypes in tuberculosis patients of the Sudan savanna of Nigeria.

Phenotyping hemoglobin polymorphisms of sheep

Phenotyping hemoglobin variants of a flock of adult Altamurana sheep led to individuals with an unusual level of polymorphism being found. To find the best hemoglobin band resolution, isoelectric focusing (IEF) in traditional and in immobilized pH gradients (IPGs) of six different hemoglobin phenotypes were compared. Such a comparison afforded the following results: (1) all hemoglobin variants focus in a range of 0.7 pH units (6.7–7.4); (2) traditional IEF in the presence of chemical spacers allows the resolution of α 8Ala hemoglobin which usually remains undetected; (3) owing to the high number of hemoglobin variants in the samples, IPGs were performed in a range of 1 pH unit and exhibited almost the same results as IEF in the presence of chemical spacers. In conclusion with traditional IEF procedures, chemical spacers provided improved resolution of hemoglobin variants and the same results as IPG gels in 1 pH unit.

Strain differences in hemoglobin polymorphism, oxygen consumption, and blood oxygen equilibria in three hatchery broodstocks of arctic charr,Salvelinus alpinus

Hemoglobin polymorphism, standard oxygen consumption, and blood oxygen equilibria were examined in three stocks of Arctic charr,Salvelinus alpinus, originating from the central Arctic (Nauyuk Lake) and Labrador (Fraser River) regions of Canada and from Norway (Storvatn) and maintained at the Rockwood Experimental Fish Hatchery in Gunton, Manitoba. Ten hemoglobin isomorphs were identified in the blood of adult charr by starch gel electrophoresis at pH 8.6. Five anodic isomorphs were found in all charr. The stocks differed, however, in the occurrence an relative concentrations of five cathodic isomorphs. Nauyuk Lake charr exhibited two hemoglobin phenotypes based on the presence of either three (3-C) or five (5-C) cathodic isomorphs whereas the Labrador charr were uniformly the 5-C phenotype and the Norwegian charr were uniformly the 3-C phenotype. Physiologically, the Labrador and Norwegian charr exhibited similar standard rates of oxygen consumption over a weight range of 0.5 to 50 g and similar blood oxygen equilibria. Charr from Nauyuk Lake exhibited higher standard oxygen consumption rates at weights above 10 g, and blood with both a higher oxygen affinity and a larger Bohr shift than the other two charr strains. All charr strains exhibited very low residual oxygen levels.

Haemoglobin phenotypes of the wild European mouflon sheep living on the island of Sardinia

Haemoglobin (Hb) phenotypes have been studied in 100 wild European mouflons living on the island of Sardinia by means of isoelectric focusing (pH 6.7-7.7 range) of the native tetramers, acid-urea-Triton gel-electrophoresis, and reversed-phase HPLC of globin chains. The result indicates the presence of two beta-globin alleles one of which, corresponding to the beta B, being the most common (f = 0.94). None were carriers of the earlier described Hb A. The new Hb was provisionally named Hb M. Severely anaemic mouflons were able to synthesize Hb C at expense of the Hb B alone, thus suggesting structural and physiological homologies between mouflon beta B and sheep beta A globin genes, and between the newly observed beta M allele and the beta B of the domestic Sardinian sheep.

Syngeneic and Allogeneic Bone Marrow Engraftment After Total Body Irradiation: Dependence on Dose, Dose Rate, and Fractionation

Murine bone marrow chimera models were used to assess the efficacy of host total body irradiation (TBI) given at different doses, dose rates, and fractionation schemes in providing for engraftment of syngeneic and allogeneic bone marrow. B6-Hbbd congenic and LP mice, respectively, were used as donors (10(7) bone marrow cells) for syngeneic and allogenic (H-2 compatible) transplantation in standard B6 recipients. Stable marrow chimerism was determined from host and donor stem cell-derived hemoglobin phenotypes (Hbbs and Hbbd) on gel electrophoresis at 3 months posttransplant. Partial engraftment of syngeneic marrow was seen at single doses as low as 2 Gy, with the donor component increasing steadily with increasing TBI dose to a level of 100% at 7 Gy. Immunologic resistance of the host appeared to prevent allogeneic engraftment until 5.5 Gy. A very steep radiation dose response was then observed so that the level of chimerism with 6 Gy and above became comparable with syngeneic engraftment. Low dose rate (5 cGy minute-1) and fractionated TBI required higher total doses for equivalent engraftment (radiation dose-sparing) in both syngeneic and allogenic bone marrow transplantation. This displacement in the dose-response curve on fractionation was seen with interfraction intervals of 3 and 6 hours. A further dose-sparing effect was observed on extending the interval to 18 and 24 hours, but only for allogeneic transplantation, and may therefore be related to recovery of immune-mediated graft resistance. The involvement of multiple target cell populations in determining allogenic engraftment rendered the application of the linear-quadratic model for radiation cell survival problematic in this case. The recovery in dose when low dose rate and 6-hour interfraction intervals were applied in either syngeneic or allogeneic BMT is consistent with appreciable sub-lethal damage repair in the primitive self-renewing stem cell population of the host marrow. These results contrast with the poor repair capacity of the 11-day spleen colony-forming units (CFUs) population after fractionated irradiation and support the notion that ablation of early stem cells in the pre-CFUs compartment is essential for long-term marrow engraftment.

Syngeneic and allogeneic bone marrow engraftment after total body irradiation: dependence on dose, dose rate, and fractionation

Murine bone marrow chimera models were used to assess the efficacy of host total body irradiation (TBI) given at different doses, dose rates, and fractionation schemes in providing for engraftment of syngeneic and allogeneic bone marrow. B6-Hbbd congenic and LP mice, respectively, were used as donors (10(7) bone marrow cells) for syngeneic and allogenic (H-2 compatible) transplantation in standard B6 recipients. Stable marrow chimerism was determined from host and donor stem cell- derived hemoglobin phenotypes (Hbbs and Hbbd) on gel electrophoresis at 3 months posttransplant. Partial engraftment of syngeneic marrow was seen at single doses as low as 2 Gy, with the donor component increasing steadily with increasing TBI dose to a level of 100% at 7 Gy. Immunologic resistance of the host appeared to prevent allogeneic engraftment until 5.5 Gy. A very steep radiation dose response was then observed so that the level of chimerism with 6 Gy and above became comparable with syngeneic engraftment. Low dose rate (5 cGy minute-1) and fractionated TBI required higher total doses for equivalent engraftment (radiation dose-sparing) in both syngeneic and allogenic bone marrow transplantation. This displacement in the dose-response curve on fractionation was seen with interfraction intervals of 3 and 6 hours. A further dose-sparing effect was observed on extending the interval to 18 and 24 hours, but only for allogeneic transplantation, and may therefore be related to recovery of immune-mediated graft resistance. The involvement of multiple target cell populations in determining allogenic engraftment rendered the application of the linear-quadratic model for radiation cell survival problematic in this case. The recovery in dose when low dose rate and 6-hour interfraction intervals were applied in either syngeneic or allogeneic BMT is consistent with appreciable sub-lethal damage repair in the primitive self-renewing stem cell population of the host marrow. These results contrast with the poor repair capacity of the 11-day spleen colony- forming units (CFUs) population after fractionated irradiation and support the notion that ablation of early stem cells in the pre-CFUs compartment is essential for long-term marrow engraftment.

Novel alpha haemoglobin haplotypes in horses.

Four minor haplotypes that produce abnormal haemoglobin phenotypes in horses have been characterized. Two of them, AIIb and V, are copy number variants with, respectively, one and three alpha genes instead of the normal complement of two. The AIIa and C haplotypes, on the other hand, each have two alpha genes but, as a result of probable gene conversions, they now encode identical, though haplotype specific, globins. Two out of 60 unrelated and phenotypically normal horses studied had an unusual triplicated rearrangement in the embryonic zeta-gene locus. Each of these variants appears to have been produced by aberrant recombination events.

Haemoglobin polymorphism in Norwegian red cattle.

By the use of isoelectric focusing in polyacrylamide gels and the Immobiline method at pH range 7.1-7.7, three haemoglobin (Hb) phenotypes were observed in Norwegian Red Cattle. Two one-band phenotypes named HbA4 and HbA6 occurred in unequal proportions in their two-band combination type with the cathodal HbA6 being the stronger. In 76 dam-offspring pairs the distribution of phenotypes were in agreement with codominant single gene inheritance. In an unselected material of 140 animals, gene frequencies were HbA4 = 0.94 and HbA6 = 0.06.

Glucose-6-phosphate dehydrogenase deficiency in Saudi Arabia. A study in Al-Ula.

This paper reports the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the male and female population of A1-Ula in the northwestern province of Saudi Arabia. The frequency of G6PD deficiency in the male population was 0.098 and in the females it was 0.028. This frequency is significantly lower than those reported for other malaria endemic regions in Arabia. The population was further subgrouped on the basis of their haemoglobin phenotypes and the highest frequency of G6PD deficiency was obtained in male Hb S heterozygotes followed by the male Hb S homozygotes. Phenotyping of G6PD revealed the presence of G6PD-Mediterranean, G6PDA+, G6PDA- and G6PD Mediterranean-like, and the frequency of these variants in Al-Ula was different from those reported in other regions of Saudi Arabia.

In vivo regulation of hemoglobin phenotypes of developing Rana catesbeiana

We have examined the effects of phenylhydrazine-induced anemia on the in vivo synthesis of specific hemoglobins at larval, metamorphic, and post-metamorphic stages of the bullfrog Rana catesbeiana, and have found that at all stages the animals qualitatively and quantitatively regenerate their pre-anemia hemoglobin profiles, with one exception: Animals approaching or undergoing the metamorphic hemoglobin switch synthesize only adult hemoglobin during recovery from anemia. We conclude that the ontogenetic progression of hemoglobins in R. catesbeiana is regulated at the level of differentiation of distinct erythroid cell lines, each committed to expressing a particular hemoglobin phenotype; this regulation is unperturbed by anemia.

Hemoglobin patterns in different populations of Synbranchus marmoratus Bloch, 1795 (Pisces, Synbranchidae)

1. 1. Total hemolysates of Synbranchus marmoratus Bloch, 1795 captured at four different sites in the State of São Paulo, Brazil, showed two different hemoglobin phenotypes when submitted to agar-starch gel electrophoresis on glass slides in basic buffer. 2. 2. Phenotype I was characterized by 3 hemoglobin bands. When the total hemolysate was submitted to cellulose acetate electrophoresis in basic buffer containing 6 M urea and β-mercaptoethanol, Phenotype I showed four globins of the α 1, α 2, β and γ types, with 11.9 ± 1.9 g% total hemoglobin, 45.3 ± 3.6% globular volume, and 26.8 ± 4.4% mean corpuscular hemoglobin concentration (MCHC). 3. 3. Phenotype II showed three groups of hemoglobins, with a total of up to 12 hemoglobin bands. When the total hemolysate was submitted to cellulose acetate electrophoresis in basic buffer containing 6 M urea and β-mercaptoethanol, phenotype II showed five types of globins, denoted types α 1, α 2, γ 1, γ 2 and β, having electrophoretic positions different from those of Phenotype I globins, with 18.1 ± 3.3% total hemoglobin, 47.9 ± 6.4% globular volume, and 37.8 ± 4.4% MCHC. 4. 4. The distribution of the specimens having the two hemoglobin phenotypes is associated with the different geomorphological provinces of the State of São Paulo, suggesting the existence of at least two populational groups of Synbranchus marmoratus.

Haemoglobin and transferrin polymorphisms in some turkish native sheep and their several crosses.

Variants of serum transferrin and red cell haemoglobin in two native sheep breeds (Awassi and Mor Karaman) and purebreed of Merinos and their several cross breed populations were studied by starch gel electrophoresis. The frequencies of transferrin and haemoglobin phenotypes and their alleles were researched. Although the phenotype of Hb-AA was very rare, all three haemoglobin types were clarified. Five transferrin alleles (TfA, TfB, TfM, TfD, TfE) were recognized in whole populations. Fourteen transferrin phenotypes consisting of four homozygotes and ten heterozygotes were recognized. Genotype and gene frequencies of each allele were demonstrated.

Prostaglandin E 2 mediated effects on the synthesis of fetal and adult hemoglobin in blood erythroid bursts

The effects of prostaglandin E 2 (PGE 2) in association with erythropoietin on the synthesis of fetal and adult hemoglobin in peripheral blood-derived erythroid burst colonies from normal adults and from patients with sickle cell anemia were investigated. The synthesized hemoglobin at the end of 8, 14 or 18 days in culture was separated by DEAE-cellulose chromatography of 35S-methione labelled hemoglobin. Quantitative estimation of the synthesized hemoglobin phenotypes, for the three indicated culture periods, showed preferential synthesis of Hb F in addition to an overall increase in hemoglobin synthesis in PGE 2 treated colonies. Furthermore, the reactivation of fetal hemoglobin production by PGE 2 was more pronounced when the adherent cells were included in the culture dishes. These results indicate that the addition of PGE 2 to culture dishes presumably constitutes an environmental change to promote the functional seen in the blood erythroid bursts in terms of Hb synthesis and switching.

An investigation of five genetic loci controlling polymorphic variants in the red cells of goats.

Results of a joint study carried out in South Africa and England to search for new genetic markers in the blood of goats are presented. Haemoglobin (Hb) phenotypes were reinvestigated with the technique of isoelectric focusing; frequencies in different goat breeds are given. Anaemic Hb type A, AB and B goats all produced a Hb C with an identical electrophoretic pattern. All goats tested had identical carbonic anhydrase (CA) types, but showed polymorphism of 'X' protein. Preliminary results indicated that nucleoside phosphorylase (NP) may be polymorphic.

Two Transitions of Haemoglobin Expression in Xenopus: from Embryonic to Larval and from Larval to Adult

Electrophoretic analyses of haemoglobin and globin phenotypes in families of Xenopus borealis and Xenopus l. laevis revealed two developmental haemoglobin transitions during ontogeny. The first transition occurs at the developmental stage when tadpoles begin to feed. It is characterized by the decline of embryonic-specific globins in favour of novel, tadpole-specific globins ( X. borealis) correlated to changes in the haemoglobin pattern. We suppose that this switch results from the replacement of a primitive, ventral blood island-dependent erythrocyte population by tadpole erythrocytes from other erythropoietic sites. Several other globin chains and haemoglobins are present in both young tadpoles and throughout larval life. The second, well-known transition occurs during metamorphosis, where all tadpole haemoglobins are replaced by adult haemoglobins composed of entirely different globin chains.

Hemoglobin polymorphism in inbred strains of rats (Rattus norvegicus).

Hemoglobin phenotypes A and B were determined by polyacrylamide gel electrophoresis of erythrocyte lysates from 29 inbred strains of rats. Fourteen strains have phenotype A and fifteen have phenotype B, which are characterized by five and six hemoglobin bands, respectively. Breeding studies showed that the phenotypes are codominant and that they segregate in a simple Mendelian fashion in the (A x B) F1 x A backcross. Sex and hemoglobin phenotype assort independently, and the hemoglobin phenotype is not linked to the major histocompatibility complex (RT1) and to two erythrocyte alloantigenic systems (RT2 and RT3).

Dx: Sickle Cell Anemia With Iron Deficiency Rx: Withhold Iron!!??

Thalassemia, a quantitative hemoglobinopathy, plagues more racial groups and victims than the better-publicized qualitative hemoglobinopathy, sickle cell disease. These genetic diseases with their permutations afflict unnumbered millions the world over. The sickle hemoglobin phenotypes in descending order of their prevalence are AS, SS, SC, and S/β-thalassemia. Any physician may encounter one or another of these hemoglobinopathies among his patients. Natta and co-workers discuss in this issue ofThe Journal(p 1442) the differential diagnostic problem presented by two mimetic phenotypes, homozygous S, or sickle cell anemia (SCA), and the doubly heterozygous hemoglobinopathy, S/β-thalassemia. Even more intriguing is the unusual management by these authors of withholding iron therapy in their patient with SCA who was proved conclusively to have iron deficiency, even though an increased incidence of infections may occur in such a patient. An understanding of the current concepts of the sickling event will explain such perplexing management of proved