scholarly journals Metabolism of Heterogenic Hemoglobins

Blood ◽  
1963 ◽  
Vol 22 (3) ◽  
pp. 334-341 ◽  
Author(s):  
RICHARD D. LEVERE ◽  
HERBERT C. LICHTMAN ◽  
Joan Levine
Keyword(s):  
Pulmonary Tuberculosis ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Hemoglobin S ◽  
Active Pulmonary Tuberculosis ◽  
Hemoglobin A ◽  
Abnormal Hemoglobin

Abstract The relative rates of incorporation of Fe59 into heterogenic hemoglobins was studied in four patients with sickle cell trait. Three of the patients were free of superimposed disease, while one had active pulmonary tuberculosis. In all subjects there was a significantly greater incorporation of radioiron, per milligram of hemoglobin, into hemoglobin S than into hemoglobin A. The data indicate that in sickle cell trait the rates of synthesis of the heterogenic hemoglobins are not proportional to their circulating concentrations. Two interpretations appear possible. Since the size of the intra-marrow pool of hemoglobin S was not known, it is possible that there exists a smaller preformed pool of the abnormal hemoglobin, with the isotope making its appearance first in hemoglobin S. However, it is also possible that hemoglobin S is synthesized at a rate which is greater than that reflected by its circulating concentration. This implies that the relative concentrations of hemoglobin S and hemoglobin A vary from erythrocyte to erythrocyte, and that those cells with the greatest proportion of hemoglobin S are selectively destroyed.

scholarly journals Variation in the Amount of Hemoglobin S in a Patient with Sickle Cell Trait and Megaloblastic Anemia

Blood ◽  
1963 ◽  
Vol 21 (4) ◽  
pp. 479-483 ◽  
Author(s):  
PAUL HELLER ◽  
VINCENT J. YAKULIS ◽  
ROBERT B. EPSTEIN ◽  
SIGMUND FRIEDLAND
Keyword(s):  
Bone Marrow ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Megaloblastic Anemia ◽  
Hemoglobin S ◽  
Hemoglobin A ◽  
Preferential Synthesis

Abstract A patient with sickle cell trait and nutritional megaloblastic anemia was found to have a much smaller proportion of hemoglobin S during the megaloblastic phase than after recovery. This observation suggests preferential synthesis of hemoglobin A by megaloblastic bone marrow in the presence of the A-S trait.

scholarly journals Combinations of Hemoglobin G, Hemoglobin S and Thalassemia Occurring in One Family

Blood ◽  
1957 ◽  
Vol 12 (3) ◽  
pp. 238-250 ◽  
Author(s):  
H. C. SCHWARTZ ◽  
T. H. SPAET ◽  
W. W. ZUELZER ◽  
J. V. NEEL ◽  
A. R. ROBINSON ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Normal Variant ◽  
Hemoglobin S ◽  
S Gene ◽  
Hemoglobin A ◽  
Caucasian Family

Abstract 1. A Caucasian family is described in which, on the basis of clinical, hematologic and biochemical findings, it is postulated that the genes responsible for hemoglobins S and G and for the thalassemia defect are present. 2. On the basis of the study of this family, it is concluded that: a. The genes responsible for hemoglobins G and S cannot be alleles. b. The genes responsible for hemoglobin G and thalassemia cannot be alleles. c. The absence of hemoglobin A in individuals heterozygous for two "hemoglobin genes" does not provide critical evidence concerning the allelic relations of such genes. d. In this family, heterozygosity for the gene responsible for hemoglobin G results in an asymptomatic trait condition, in which some 40% of the hemoglobin is abnormal. When the gene responsible for G is combined with a hemoglobin S gene or a thalassemia gene, or both, the presence of hemoglobin G does not significantly alter the expression of these genes on their combinations. For example, an individual of the phenotype SG, whose hemoglobin contained no demonstrable A, was clinically a sickle cell trait, in that he showed no evidence of physiologic handicap. e. Individuals heterozygous for both the G and thalassemia genes may show on electrophoresis only hemoglobin G. This illustrates the unreliability in some cases of diagnosing genotype on the basis of electrophoretic findings. f. On the basis of these findings, hemoglobin G should probably be regarded as a normal variant of hemoglobin rather than as an abnormal type of hemoglobin.

scholarly journals Association of Sickle Cell Trait and Hemoglobin S Percentage with Physical Fitness

2018 ◽  
Vol 50 (12) ◽  
pp. 2488-2493 ◽  
Author(s):  
BRYANT J. WEBBER ◽  
COLBY C. UPTEGRAFT ◽  
NATHANIEL S. NYE ◽  
Francis G. O’Connor
Keyword(s):  
Physical Fitness ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Hemoglobin S

scholarly journals Sickle Retinopathy in a Person with Hemoglobin S/New York Disease

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Donovan Calder ◽  
Maryse Etienne-Julan ◽  
Marc Romana ◽  
Naomi Watkins ◽  
Jennifer M. Knight-Madden
Keyword(s):  
New York ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Laboratory Diagnosis ◽  
Compound Heterozygote ◽  
Cell Disease ◽  
Hemoglobin S

A patient who presented with sickle retinopathy and hemoglobin electrophoresis results compatible with sickle cell trait was found, on further investigation, to be a compound heterozygote with hemoglobin S and hemoglobin New York disease. This recently reported form of sickle cell disease was not previously known to cause retinopathy and surprisingly was observed in a non-Asian individual. The ophthalmological findings, the laboratory diagnosis, and possible pathophysiology of this disorder are discussed. Persons diagnosed with sickle cell trait who present with symptoms of sickle cell disease may benefit from specific screening for this variant.

scholarly journals Radioactive Sodium Chromate for the Study of Survival of Red Blood Cells

Blood ◽  
1954 ◽  
Vol 9 (12) ◽  
pp. 1155-1164 ◽  
Author(s):  
IRWIN M. WEINSTEIN ◽  
CARROLL L. SPURLING ◽  
HERMAN KLEIN ◽  
THOMAS F. NECHELES
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Sodium Chromate ◽  
Red Cell ◽  
Survival Times ◽  
Hemoglobin C ◽  
Cell Life ◽  
Erythrocyte Survival ◽  
Abnormal Hemoglobin ◽  
Radioactive Sodium

Abstract Cr51 erythrocyte survival times are reported in a group of patients with a variety of abnormal hemoglobin syndromes. Marked decreases in survival time are demonstrated in pure sickle cell anemia. Shortened survival times are reported in one case each of hemoglobin C disease and sickle cell-hemoglobin C disease with compensated hemolysis. Normal survival times are reported in sickle cell trait and hemoglobin C trait. Red cell life span as measured by the Cr51 technic agrees well with most published reports of survival times in these disorders in cases performed with the Ashby technic. The Cr51 method appears to be as useful in measuring the survival of erythrocytes containing abnormal hemoglobins as it has been shown to be in other hemolytic disorders as well as in normals. Its decided advantages are its simplicity, adaptability, and reliability.

Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait

Blood ◽  
2010 ◽  
Vol 116 (15) ◽  
pp. 2822-2825 ◽  
Author(s):  
Jeffrey J. Swensen ◽  
Archana M. Agarwal ◽  
Jose M. Esquilin ◽  
Sabina Swierczek ◽  
Ajay Perumbeti ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Uniparental Disomy ◽  
Mendelian Inheritance ◽  
Cell Disease ◽  
Erythroid Progenitors ◽  
Mendelian Genetics ◽  
Abnormal Hemoglobin ◽  
Hb S

Abstract Sickle cell disease (SCD) is a classic example of a disorder with recessive Mendelian inheritance, in which each parent contributes one mutant allele to an affected offspring. However, there are exceptions to that rule. We describe here the first reported case of conversion of inherited sickle cell trait to SCD by uniparental disomy (UPD) resulting in mosaicism for SS and AS erythrocytes. A 14-year-old boy presented with splenomegaly and hemolysis. Although his father has sickle cell trait, his mother has no abnormal hemoglobin (Hb). DNA sequencing, performed to rule out Hb S/β-thalassemia, detected homozygous Hb SS. Further studies revealed mosaic UPD of the β-globin locus, more SS erythroid progenitors than AS, but a reverse ratio of erythrocytes resulting from the survival advantage of AS erythrocytes. This report exemplifies non-Mendelian genetics wherein a patient who inherited sickle cell trait has mild SCD resulting from postzygotic mitotic recombination leading to UPD.

Hemoglobin S levels in sickle cell trait individuals

1984 ◽  
Vol 16 (2) ◽  
pp. 123-127 ◽  
Author(s):  
Bruce F. Cameron ◽  
Diane B. Smith ◽  
Barbara Cody
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Hemoglobin S

scholarly journals Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing

Blood ◽  
1980 ◽  
Vol 56 (6) ◽  
pp. 1068-1071 ◽  
Author(s):  
F Galacteros ◽  
K Kleman ◽  
J Caburi-Martin ◽  
Y Beuzard ◽  
J Rosa ◽  
...  
Keyword(s):  
Thin Layer ◽  
Cord Blood ◽  
Sickle Cell ◽  
Isoelectric Focusing ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Abnormal Hemoglobin ◽  
Excellent Method ◽  
Hemoglobin Variants ◽  
Blood Screening

Hemoglobin variants can be successfully identified in cord blood samples. The methods most commonly used include cellulose acetate (CAC) and citrate agar (CAG) electrophoresis. Recently thin layer isoelectric focusing (TLIF) has been shown to be an excellent method for identifying hemoglobin variants. To determine the applicability of TLIF for cord blood screening, we compared the results of 835 samples obtained by TLIF with that obtained by CAC, CAG, and the combination of both CAC and CAG. In 100 of these samples we detected an abnormal hemoglobin pattern using TLIF. In contrast, we detected only 80 abnormal samples by CAC, 70 by CAG, and 80 by using the combination of CAC and CAG. Due to the increased resolution provided by TLIF, we correctly diagnosed two sickle cell trait samples by TLIF that were incorrectly suspected to be homozygous for sickle cell disease by CAC and CAG. We identified 41 samples containing Bart's hemoglobin by TLIF in contrast to only 21 using CAC and 14 using CAG. The time and cost of TLIF was comparable to that using the combination of both methods. We, therefore, conclude that TLIF is the method of choice for cord blood screening.

scholarly journals Cord blood screening for hemoglobin abnormalities by thin layer isoelectric focusing

Blood ◽  
1980 ◽  
Vol 56 (6) ◽  
pp. 1068-1071 ◽  
Author(s):  
F Galacteros ◽  
K Kleman ◽  
J Caburi-Martin ◽  
Y Beuzard ◽  
J Rosa ◽  
...  
Keyword(s):  
Thin Layer ◽  
Cord Blood ◽  
Sickle Cell ◽  
Isoelectric Focusing ◽  
Sickle Cell Trait ◽  
Cell Disease ◽  
Abnormal Hemoglobin ◽  
Excellent Method ◽  
Hemoglobin Variants ◽  
Blood Screening

Abstract Hemoglobin variants can be successfully identified in cord blood samples. The methods most commonly used include cellulose acetate (CAC) and citrate agar (CAG) electrophoresis. Recently thin layer isoelectric focusing (TLIF) has been shown to be an excellent method for identifying hemoglobin variants. To determine the applicability of TLIF for cord blood screening, we compared the results of 835 samples obtained by TLIF with that obtained by CAC, CAG, and the combination of both CAC and CAG. In 100 of these samples we detected an abnormal hemoglobin pattern using TLIF. In contrast, we detected only 80 abnormal samples by CAC, 70 by CAG, and 80 by using the combination of CAC and CAG. Due to the increased resolution provided by TLIF, we correctly diagnosed two sickle cell trait samples by TLIF that were incorrectly suspected to be homozygous for sickle cell disease by CAC and CAG. We identified 41 samples containing Bart's hemoglobin by TLIF in contrast to only 21 using CAC and 14 using CAG. The time and cost of TLIF was comparable to that using the combination of both methods. We, therefore, conclude that TLIF is the method of choice for cord blood screening.

Sign in / Sign up

Export Citation Format

Share Document