Homozygous hemoglobin

Schneider, R. G., and Galveston, T., Incidence of Hemoglobin C trait in 505 normal negroes a family with homozygous hemoglobin C and sickle cell trait union. J. Lab. Clin. Med. 44, 133 (1954). 

A4. Aksoy, M., The first observation of homozygous hemoglobin S-alpha thalassemia and two types of sickle cell thalassemia disease (a) Sickle cell-alpha thalassemia disease, (b) sickle cell-beta thalassemia disease. Blood 22, 757-769 (1963). 

N3. Na-Nakom, S., and Minnich, V., Studies on hemoglobin E. III. Homozygous hemoglobin E and variants of thalassemia and hemoglobin E. A family study. Blood 12, 529-538 (1957). 

Homozygous Hemoglobin S (HbSS). In homozygous Hb S, a valine for glutamic acid substitution occurs on both p-globin chains because of the inheritance of mutated P-globin chain genes from both parents. The condition is described as sickle cell anemia or sickle cell disease because of the sickle shaped RBCs that occur when there is a sickle cell crisis and is sometimes written as p p. ... 

A search for Heinz bodies Is helpful In the detection of an unstable hemoglobin, of a-thalassemia, homozygous 3-thalas-semla and related abnormalities, because hemoglobin often precipitates In the red cells of patients with one of these disorders. Inclusion bodies may consist of precipitated unstable hemoglobin, of 3 chalns (In a-thalassemia), or of a chains (In thalassemia) ... 

SCA is the homozygous (HbSS) state of SCD in which individuals inherit the mutant hemoglobin gene (HbS) from both parents. The progeny of two carriers will have a 25% probability of having SCD and a 50% risk of being a carrier themselves (Fig. 65-1). P-Thalassemia can be found in conjunction with HbS. Patients with HbSS and HbSjf- thalassemia do not... 

HbF, fetal hemoglobin HbSC, sickle-hemoglobin C HbSS, homozygous sickle hemoglobin Hgb, hemoglobin WBC, white blood cell. 

Sickle-cell anemia, as we have noted, occurs in individuals homozygous for the sickle-cell allele of the gene encoding the )3 subunit of hemoglobin. Individuals who receive the sickle-cell allele from only one parent and are thus heterozygous experience a milder condition called sickle-cell trait only about 1% of their erythrocytes become sickled on deoxygenation. These individuals may live completely normal lives if they avoid vigorous exercise or other stresses on the circulatory system. 

The major problem with designing a small molecule to treat sickle cell anemia is not so much an issue of specificity, but arises from the treatment of a chronic disease. The potential cumulative toxicity from the amount of drug needed to interact with approximately two pounds of hemoglobin S over a homozygous patient s lifetime is the major concern (22) (for a review, see Vol. 3, Chapter 10. Sickle Cell Anemia, by Alan Schecter et al). 

H59. Huisman, T. H. J., Schroeder, W. A., Bouver, N., Miller, A., Shelton, J. R., Shelton, J. B., and Apell, G., Chemical heterogeneity of fetal hemoglobin in subjects with sickle cell anemia, homozygous Hb-C disease, SC-disease, and various combination of hemoglobin variants. Clin. Chim. Acta 38, 5-16 (1972). 

Ohta, Y., Yamaoka, K., Sumida, I., Fujita, S., Fujimura, T., and Yanase, T., Homozygous delta-thalassemia first discovered in Japan e family with hereditary persisten of fetal hemoglobin. Bhod 37, 706-715 (1971). 

W21. Wheeler, J. T., and Krevans, J. R., The homozygous state of persistent fetal hemoglobin and the interaction of persistent fetal hemoglobin with thalassemia. BuU. Johns Hopkins Hosp, 109, 215-231 (1961). 

Losco P, Nash G, Stone P, Ventre J. Comparison of the effects of radiographic contrast media on dehydration and filterability of red blood cells from donors homozygous for hemoglobin A or hemoglobin S. Am J Hematol 2001 68(3) 149-58. 

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