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HEMATOLOGY | |
Mild anemia with microcytosis and hypochromia in the heterozygote (beta+-thal) | |
ELECTROPHORESIS | |
Hb X and Hb A can be separated by standard procedures at alkaline pH; Hb X moves to the position of Hb S | |
CHROMATOGRAPHY | |
Hb X and Hb A can be separated by cation and anion exchange chromatography; it elutes between Hb A and Hb A2 in cation exchange HPLC | |
STRUCTURE STUDIES | |
Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing | |
DNA ANALYSES | |
A large deletion was observed by gene mapping | |
FUNCTION STUDIES | |
Not reported | |
STABILITY | |
Stable | |
OCCURRENCE | |
Hb Lepore-B-W is the most common Hb Lepore type; found mainly in Italian families; it has also been observed in families from Rumania, Yugoslavia, Turkey, Cyprus, Jamaica, Cuba, Greece, England, Australia, Mexico, etc. | |
OTHER INFORMATION | |
Quantity in heterozygotes 7-13%; found in combination with Hb S, Hb C, beta+-thal, and in the homozygous state | |
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REFERENCES |
1. | |
Baglioni, C.: Proc. Natl. Acad. Sci. USA, 48:1880, 1962. | |
2. | |
Labie, D., Schroeder, W.A., and Huisman, T.H.J.: Biochim. Biophys. Acta, 127: 428, 1966. | |
3. | |
And numerous others. The reader is invited to consult text books such as: Bunn and Forget, Hemoglobin: Molecular, Genetic and Clinical Aspects, Saunders, Philadelphia, 1986; Weatherall and Higgs, The Haemoglobinopathies, Bailliere's Clinical Haematology, Vol. 6, Saunders, London, 1993. | |