HEMOGLOBIN LEPORE TRAIT - HEMATOLOGICAL AND STRUCTURAL STUDIES ON THE ITALIAN POPULATION

被引：23
|
作者：
MARINUCCI, M [1 ]
MAVILIO, F [1 ]
MASSA, A [1 ]
GABBIANELLI, M [1 ]
FONTANAROSA, PP [1 ]
SAMOGGIA, P [1 ]
TENTORI, L [1 ]
机构：
[1] IST SUPER SANITA, REFERENCE CTR HAEMOGLOBINOPATH & THALASSAEMIAS, PATOL INFETTIVA LAB, I-00161 ROME, ITALY
来源：
BRITISH JOURNAL OF HAEMATOLOGY | 1979年 / 42卷 / 04期
关键词：
D O I：
10.1111/j.1365-2141.1979.tb01168.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Hematological data on 59 heterozygotes for Hb Lepore and 10 double heterozygotes for Hb Lepore and .beta.-thalassemia from 36 Italian families are reported. The red cell indices are defined and compared with those of groups of non-thalassemic and .beta.-thalassemic subjects of comparable number, age and sex distribution. The relative level of each Hb fraction and the absolute production of single polypeptide chains are calculated in order to compare the expression of the non-.alpha. chain genes in Hb Lepore trait and .beta.-thalassemia. Structural studies demonstrate that the Hb Lepore is of the Boston type (.delta.87 .beta.116) in all subjects, confirming that this type of fusion variant is probably the only one which occurs in Mediterranean populations. The distribution and incidence of the Lepore hemoglobinopathy are discussed.
引用
收藏
页码：557 / 565
页数：9
相关论文
共 50 条
  • [21] BETA+-THALASSEMIA TRAIT - HEMATOLOGIC AND HEMOGLOBIN SYNTHESIS STUDIES
    POOTRAKUL, S
    ASSAWAMUNKONG, S
    NANAKORN, S
    HEMOGLOBIN, 1977, 1 (01) : 75 - 83
  • [22] Compound heterozygosity for Hb S and the hybrid Hb S lepore, P-nilotic, and Kenya; Comparison of hematological end hemoglobin composition data
    Huisman, THJ
    HEMOGLOBIN, 1997, 21 (03) : 249 - 257
  • [23] HEMOGLOBIN SYNTHESIS STUDIES OF A FAMILY WITH ALPHA-THALASSEMIA TRAIT AND SICKLE-CELL TRAIT
    SHAEFFER, JR
    DESIMONE, J
    KLEVE, LJ
    BIOCHEMICAL GENETICS, 1975, 13 (11-1) : 783 - 788
  • [24] HEMOGLOBIN SYNTHESIS STUDIES OF A FAMILY WITH ALPHA-THALASSEMIA TRAIT AND SICKLE-CELL TRAIT
    SHAEFFER, J
    DESIMONE, J
    KLEVE, L
    AMERICAN JOURNAL OF HUMAN GENETICS, 1974, 26 (06) : A78 - A78
  • [25] HEMOGLOBIN H DISEASE IN THAILAND - CLINICAL AND HEMATOLOGICAL STUDIES IN 138 CASES
    NANAKORN, S
    WASI, P
    SUINGDUMRONG, A
    ISRAEL JOURNAL OF MEDICAL SCIENCES, 1965, 1 (4P2): : 762 - +
  • [26] A FAMILY WITH HOMOZYGOUS HEMOGLOBIN-C AND SICKLE CELL TRAIT UNION - A CLINICAL, HEMATOLOGICAL AND ELECTROPHORETIC STUDY
    LEVIN, WC
    SCHNEIDER, RG
    CUDD, JA
    JOHNSON, JE
    JOURNAL OF LABORATORY AND CLINICAL MEDICINE, 1953, 42 (06): : 918 - 919
  • [27] Molecular and Hematological Characterization of Hemoglobin H Disease in the Bengali Population of Kolkata, India
    Dastidar, Rinini
    Gajra, Bani
    De, Madhusnata
    GENETIC TESTING AND MOLECULAR BIOMARKERS, 2011, 15 (1-2) : 93 - 96
  • [28] SOME HEMATOLOGICAL PARAMETERS IN AN ANGOLAN BLACK POPULATION WITH 2 POLYMORPHIC HEMOGLOBIN VARIANTS
    NURSE, GT
    SOUTH AFRICAN MEDICAL JOURNAL, 1975, 49 (26): : 1058 - 1058
  • [29] STUDIES ON HEMOGLOBIN SYNTHESIS IN RETICULOCYTES OF SICKLE-CELL TRAIT INDIVIDUALS
    SHAEFFER, J
    DESIMONE, J
    KLEVE, L
    FEDERATION PROCEEDINGS, 1974, 33 (05) : 1549 - 1549
  • [30] WAXS Studies of the Structural Diversity of Hemoglobin in Solution
    Makowski, L.
    Bardhan, J.
    Gore, D.
    Lal, J.
    Mandava, S.
    Park, S.
    Rodi, D. J.
    Ho, N. T.
    Ho, C.
    Fischetti, R. F.
    JOURNAL OF MOLECULAR BIOLOGY, 2011, 408 (05) : 909 - 921
12345