HEMOGLOBIN C. REPORT OF THE HOMOZYGOUS CONDITION AND OF COMBINATIONS WITH NORMAL AND SICKLE CELL HEMOGLOBIN

Two families showing abnormal hemoglobin types are described. One case represents the fifth reported instance homozygous C disease. The clinical picture is discussed, and the importance of electrophoresis in making a definitive diagnosis is stressed.

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

Blood ◽

10.1182/blood.v9.12.1155.1155 ◽

1954 ◽

Vol 9 (12) ◽

pp. 1155-1164 ◽

Cited By ~ 19

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.

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SALMONELLA OSTEOMYELITIS AND ABNORMAL HEMOGLOBIN DISEASE

PEDIATRICS ◽

10.1542/peds.20.3.439 ◽

1957 ◽

Vol 20 (3) ◽

pp. 439-447

Author(s):

Henry K. Silver ◽

Jimmy L. Simon ◽

David H. Clement

Keyword(s):

Sickle Cell ◽

The Other ◽

Review Of The Literature ◽

Hemoglobin C ◽

Negro Girl ◽

Abnormal Hemoglobin ◽

Salmonella Osteomyelitis

Two cases of salmonella osteomyelitis and abnormal hemoglobin disease are reported; the first in a white boy with combined sickle cell-Mediterranean anemia and the second in a Negro girl with hemoglobin C-D disease. One case represents the first reported instance of salmonella osteomyelitis occurring in a patient with a mixed heterozygous hemoglobin disease while the other is the first observed in a patient with a hemoglobinopathy without sickling. A complete review of the literature is presented.

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32DFP and 51Cr for Measurement of Red Cell Life Span in Abnormal Hemoglobin Syndromes

Blood ◽

10.1182/blood.v33.2.214.214 ◽

1969 ◽

Vol 33 (2) ◽

pp. 214-224 ◽

Cited By ~ 39

Author(s):

PAUL R. MCCURDY

Keyword(s):

Life Span ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Red Cells ◽

Red Cell ◽

Daily Range ◽

Hemoglobin C ◽

Cell Life ◽

Abnormal Hemoglobin ◽

Elution Rate

Abstract The red cell life span was measured simultaneously using 51Cr and 32DFP in 21 patients with abnormal hemoglobin β chains and in 7 patients with normal hemoglobin. The patients included 9 with sickle cell anemia, 2 with sickle-β-thalassemia disease, 2 with sickle cell-hemoglobin C disease, 3 with homozygous hemoglobin C disease, 4 with sickle cell trait and 1 with hemoglobin C trait. The 51Cr elution rate from red cells carrying abnormal β chains was 1.2 per cent daily (range: 0.1-2.7 per cent; 4 patients had 2-component elution curves, the first of which was quite rapid (4.1-19.5 per cent daily) and could lead to significant error in the 51Cr estimate of red cell survival. The 51Cr elution rate for red cells with normal β chains was 1.3 per cent daily (range: 0.7-1.6 per cent). In the steady state, production of red cells was estimated from the 32DFP life span. Both figures varied with the disease process but erythropoiesis seldom obtained the 6-8 fold increase over normal that is considered to be the capability of normal bone marrow and hence a relative erythropoietic defect seems to be frequently present in patients with abnormal hemoglobin diseases. Two sibling pairs with sickle cell anemia were studied and were found to vary from each other as much as did the other patients with this disorder.

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Metabolism of Heterogenic Hemoglobins

Blood ◽

10.1182/blood.v22.3.334.334 ◽

1963 ◽

Vol 22 (3) ◽

pp. 334-341 ◽

Cited By ~ 10

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.

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Is Skeletal Muscle Dysfunction a Limiting Factor of Exercise Functional Capacity in Patients with Sickle Cell Disease?

Journal of Clinical Medicine ◽

10.3390/jcm10112250 ◽

2021 ◽

Vol 10 (11) ◽

pp. 2250

Author(s):

Etienne Gouraud ◽

Philippe Connes ◽

Alexandra Gauthier-Vasserot ◽

Camille Faes ◽

Salima Merazga ◽

...

Keyword(s):

Skeletal Muscle ◽

Sickle Cell Disease ◽

Muscle Fatigue ◽

Sickle Cell ◽

Functional Capacity ◽

Muscle Dysfunction ◽

Electromyographic Activity ◽

Cell Disease ◽

Step Frequency ◽

Hemoglobin C

Patients with sickle cell disease (SCD) have reduced functional capacity due to anemia and cardio–respiratory abnormalities. Recent studies also suggest the presence of muscle dysfunction. However, the interaction between exercise capacity and muscle function is currently unknown in SCD. The aim of this study was to explore how muscle dysfunction may explain the reduced functional capacity. Nineteen African healthy subjects (AA), and 24 sickle cell anemia (SS) and 18 sickle cell hemoglobin C (SC) patients were recruited. Maximal isometric torque (Tmax) was measured before and after a self-paced 6-min walk test (6-MWT). Electromyographic activity of the Vastus Lateralis was recorded. The 6-MWT distance was reduced in SS (p < 0.05) and SC (p < 0.01) patients compared to AA subjects. However, Tmax and root mean square value were not modified by the 6-MWT, showing no skeletal muscle fatigue in all groups. In a multiple linear regression model, genotype, step frequency and hematocrit were independent predictors of the 6-MWT distance in SCD patients. Our results suggest that the 6-MWT performance might be primarily explained by anemia and the self-paced step frequency in SCD patients attempting to limit metabolic cost and fatigue, which could explain the absence of muscle fatigue.

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Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family

Annals of Hematology ◽

10.1007/s00277-010-1014-1 ◽

2010 ◽

Vol 90 (3) ◽

pp. 357-358 ◽

Cited By ~ 4

Author(s):

Dilip K. Patel ◽

Siris Patel ◽

Ranjeet S. Mashon ◽

Preetinanda M. Dash ◽

Malay B. Mukherjee

Keyword(s):

Sickle Cell ◽

Phenotypic Expression ◽

Indian Family ◽

Hemoglobin C

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Developmental Pattern of Splenic Dysfunction in Sickle Cell Disorders

PEDIATRICS ◽

10.1542/peds.76.3.392 ◽

1985 ◽

Vol 76 (3) ◽

pp. 392-397

Author(s):

Howard A. Pearson ◽

Diane Gallagher ◽

Robert Chilcote ◽

Edmund Sullivan ◽

Judith Wilimas ◽

...

Keyword(s):

Sickle Cell ◽

Bacterial Infections ◽

Fetal Hemoglobin ◽

Developmental Pattern ◽

Cross Sectional ◽

Serial Measurement ◽

Hemoglobin C ◽

Sickle Cell Disorders ◽

Sectional Analysis

Splenic function in sickle hemoglobinopathy syndromes was assessed to determine the developmental pattern of splenic dysfunction. Nonvisualization of the spleen using technetium-99 metastable (99mTc) spleen scans correlated strongly with pocked (vesiculated) RBCs ≥3.5%. Cross-sectional analysis of pocked RBC data from 2,086 patients showed differences in the developmental pattern of splenic dysfunction between several disorders. In hemoglobin SS disease (sickle cell anemia) and hemoglobin Sβ° thalassemia, splenic dysfunction (≥3.5% pocked RBCs) often occurred in the first 6 to 12 months of life. In hemoglobin Sβ+ thalassemia, splenic dysfunction occurred less frequently and later. Splenic dysfunction in hemoglobin SC disease (sickle cell-hemoglobin C) was intermediate. The level of pocked RBCs was inversely associated with fetal hemoglobin (P < .007) and directly associated with age (P ≤ .001). These patterns of splenic dysfunction reflect the known severity of hemolysis and intravascular sickling and are consistent with the epidemiology of severe bacterial meningitis and sepsis in these diseases. Serial measurement of pocked RBCs permits determination of the onset of splenic dysfunction and the time of increased susceptibility to severe bacterial infections.

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