A NEW VARIANT, HB MUSCAT [ALPHA(2)BETA(2)32(B14)LEU-] OBSERVED IN ASSOCIATION WITH HB-S IN AN ARABIAN FAMILY

被引：9
|
作者：
RAMACHANDRAN, M [1 ]
GU, LH [1 ]
WILSON, JB [1 ]
KITUNDU, MN [1 ]
ADEKILE, AD [1 ]
LIU, JC [1 ]
MCKIE, KM [1 ]
HUISMAN, THJ [1 ]
机构：
[1] MED COLL GEORGIA,DEPT PEDIAT,AUGUSTA,GA 30912
来源：
HEMOGLOBIN | 1992年 / 16卷 / 04期
关键词：
D O I：
10.3109/03630269208998866
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
The silent Hb Muscat with a Leu-->Val replacement at position beta-32 was discovered by reversed phase high performance liquid chromatography in two members of an Arabian family from Oman; in one person Hb Muscat occurred with Hb S and in the other with Hb A. Hb Muscat is slightly unstable but its presence has no apparent adverse effect on the health of its carriers. Additional hemoglobin abnormalities observed in this family were a common alpha-thalassemia-2 (-3.7 kb) and Hb S. The beta(S) haplotypes in the heterozygous carriers and the two sickle cell anemia patients were #19 (Benin) and #20 (Bantu); the latter likely originated from an East African population.
引用
收藏
页码：259 / 266
页数：8
相关论文
共 50 条
  • [1] DNA DIAGNOSIS OF HB-S AND HB-CARIBBEAN (ALPHA(2)BETA(91-LEU-]ARG)(2)) IN A JAMAICAN FAMILY
    WAYE, JS
    PATTERSON, M
    ENG, B
    CHUI, DHK
    SHER, GD
    OLIVIERI, NF
    AMERICAN JOURNAL OF HEMATOLOGY, 1994, 47 (01) : 33 - 35
  • [2] POLYMERIZATION AND SOLUBILITY OF RECOMBINANT HEMOGLOBINS ALPHA-2-BETA-26VAL(HB-S) AND ALPHA-2-BETA-26LEU (HB-LEU)
    ADACHI, K
    RAPPAPORT, E
    ECK, HS
    KONITZER, P
    KIM, J
    SURREY, S
    HEMOGLOBIN, 1991, 15 (05) : 417 - 430
  • [3] HB CHAD OR ALPHA-223(B4)GLU-]LYS-BETA-2 OBSERVED IN MEMBERS OF A SURINAM FAMILY IN ASSOCIATION WITH ALPHA-THALASSEMIA-2 AND WITH HB-S
    CODRINGTON, JF
    CODRINGTON, FA
    WISSE, JH
    WILSON, JB
    WEBBER, BB
    WONG, SC
    HUISMAN, THJ
    HEMOGLOBIN, 1989, 13 (06) : 543 - 556
  • [4] HB TUBINGEN [ALPHA(2)BETA(2)106(G8)LEU-]GLN] IN A BELGIAN FAMILY
    PHILIPPE, M
    LARONDELLE, Y
    VAERMAN, JL
    MARTIAT, P
    GALACTEROS, F
    WAJCMAN, H
    LAMBERT, M
    HEMOGLOBIN, 1993, 17 (04) : 373 - 378
  • [5] HEMOGLOBIN CASTILLA BETA 32 (B14) LEU-] ARG - NEW UNSTABLE VARIANT PRODUCING SEVERE HEMOLYTIC DISEASE
    GAREL, MC
    BLOUQUIT, Y
    ROSA, J
    GARCIA, CR
    FEBS LETTERS, 1975, 58 (01) : 145 - 148
  • [6] THE BOUMERDES ALPHA-2-37-PRO-ARG-BETA-2 HEMOGLOBIN, A NEW VARIANT ASSOCIATED WITH HB-S IN AN ALGERIAN FAMILY
    DAHMANEARBANE, M
    GALACTEROS, F
    AROUS, N
    BENABADJI, M
    NOUVELLE REVUE FRANCAISE D HEMATOLOGIE, 1986, 28 (04): : 182 - 182
  • [7] Hb Sogn or alpha(2)beta(2)14(A11)LEU->ARG in combination with an alpha-thalassemia heterozygosity
    Miller, DR
    Smetanina, NS
    Gu, LH
    Leonova, JY
    Huisman, THJ
    HEMOGLOBIN, 1996, 20 (02) : 131 - 134
  • [8] HB-S BETA THALASSEMIA AND HB-A21 (B2) IN A FAMILY WITH EVIDENCE OF A CROSSOVER BETWEEN BETA AND DELTA LOCI
    THOMPSON, RB
    ODOM, J
    BELL, WN
    ACTA GENETICA ET STATISTICA MEDICA, 1965, 15 (3-4): : 371 - &
  • [9] HB ZENGCHENG OR ALPHA-2-BETA-2114(G16)LEU-]MET
    PLASESKA, D
    WILSON, JB
    GU, LH
    KUTLAR, F
    HUISMAN, THJ
    ZENG, YT
    SHEN, M
    HEMOGLOBIN, 1990, 14 (05) : 555 - 557
  • [10] HB BOUMERDES ALPHA-237(C2)PRO-]ARGBETA-2 - A NEW VARIANT IN AN ALPHA-CHAIN ASSOCIATED WITH HB-S IN AN ALGERIAN FAMILY
    DAHMANEARBANE, M
    BLOUQUIT, Y
    AROUS, N
    BARDAKDJIAN, J
    BENAMANI, M
    RIOU, J
    BENABADJI, M
    ROSA, J
    GALACTEROS, F
    NOUVELLE REVUE FRANCAISE D HEMATOLOGIE, 1987, 29 (05): : 317 - 320
12345