Lepore hemoglobins

Deletion mRNA production P -Thalassemia Hemoglobin Lepore... 

B9. Baglioni, C., and Ventruto, V., Human abnormal hemoglobins. II. A chemical study of hemoglobin Lepore from a homozygote individual. Eur. J. Biochem. 5, 29-32 (1968). 

Silvestroni, E., Bianco, I., and Baglioni, C., Interaction of hemoglobin Lepore with sickle cell trait and microcythemia (thalassemia) in a southern Italian family. Blood 25, 457-469 (1965). 

Weissman, S. M., Jeffries, I., and Karon, M., The S3mthesis of alpha, beta, and delta peptide chains by reticulocytes from subjects with thalassemia or hemoglobin Lepore. J. Lab. Clin. Med. 69, 183-193 (1967). 

In thalassemias of the jS-globin gene family, there is reduced synthesis of chains, with or without reduced synthesis of y or 5 chains. An isolated decrease in y- or 5-globin synthesis would probably be benign and likely to be detected only by chance. Hemoglobin Lepore is usually included with the jS-thalassemias, since synthesis of normal chains is reduced or absent. 

Hemoglobin Lepore contains abnormal 5-/3 fusion polypeptides. The N-terminal sequence in the non-j6... 

Baclioni, C. (1962). The fusion of two peptide chains in hemoglobin Lepore and its interpretation as a genetic deletion. Proc. Natl. Acad. Set. U.S. 4 1880-1886. 

There seems to be no doubt that the Hbp and Hbs loci are linked this is based on studies of families with p and S chain variants in which the two abnormalities segregate without cross-overs (B69, C8, H23, P3, R9), on that of a family in which the Hbs locus is linked to that for j8-thalas-semia (H42), and on the primary structures of the Lepore hemoglobins (see Section 3.1.8). Studies of four families in which mutants of the Hba locus and of the Hbp locus are segregating have shown the absence of linkage (A14, L28, M14, R13, W12). The possible linkage between the Hby loci and the Hbp and Hbs loci is discussed in Section 5. 

Hb-Gun Hill C. The Lepore hemoglobins Residues 93 through 97 deleted (B64, R19)... 

Appreciable amounts of Hb-F can be present in patients with sickle cell anemia, with SC disease, with CC disease, with the Hb-Lepore disorders, and with hemolytic anemia due to the presence of an unstable hemoglobin variant [(A9, B21, B37, G6, H15, Jl, L2, N9, R15, Sll, S33, S49, T3) and others]. 

Fig. 19. The heterogeneity of fetal hemoglobin in subjects with various hemoglobinopathies. Group A represents SS patients of which the parents have been diagnosed as Hb-S heterozygotes such information is incomplete for subjects of groups B + C. The group labeled other concerns patients with Hb-Richmond, Sabine, other unstable hemoglobins, and Hb-Lepore. Boxed-in values are from relatives.

Thalassemias, Lepore Hemoglobins, and Hereditary Persistence of Fetal Hemoglobin (HPFH)... 

Thalassemias, Lepore hemoglobin thalassemia, and HPFH are characterized by lack of /6-globin synthesis and are caused by deletions in the /3-gene family on chromosome 11 (Figure 28-14). 

Lepore 61-87, P116-U6 Fusion of 8 and (3 genes (sequence 88-115 is common to both hemoglobins) (16)... 

Honig, G. R., Shamsuddin, M., Mason, R. G., and Vida, L. N., 1978, Hemoglobin Lincoln Park A fiS fusion (anti-Lepore) variant with an amino acid deletion in the 8 chain-derived segment, Proc. Natl Acad. Sci. USA 75 1475. 

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