BIOMAT Database Logo BIOMAT Database Logo

Thalassemia intermedia associated with complex interaction of Hb Beijing [alpha16(A14)Lys-->Asn] and Hb E [beta26(B8)Glu-->Lys] with a deletional alpha-thalassemia-1 in a Thai family. 2005

Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Department of Clinical Chemistry, Khon Kaen University, Khon Kaen, Thailand. supan@kku.ac.th

A Thai family with a complex thalassemia syndrome caused by alpha- and beta-globin defects is described. The proband was a 14-year-old boy who had chronic hypochromic microcytic anemia. Hemoglobin (Hb) and DNA analyses demonstrated that he carried Hb Beijing [alpha16(A14)Lys-->Asn], Hb E [beta26(B8)Glu-->Lys] and alpha-thalassemia-1 (alpha-thal-1). Interaction of the alphaBeijing with the betaE globin chains in the proband leads to a new Hb variant, namely Hb E Beijing with different characteristics to both Hb E and Hb Beijing. Family studies showed that his father carried Hb Beijing and Hb E, whereas his mother was a simple alpha-thal-1 carrier. The genotype-phenotype relationship observed in this Thai family with complex hemoglobinopathies is presented and a simple DNA assay based on allele specific polymerase chain reaction (ASPCR) for detection of Hb Beijing is described.

UI MeSH Term Description Entries
D008297 Male Males
D005190 Family A social group consisting of parents or parent substitutes and children. Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family
D005260 Female Females
D006446 Hemoglobin E An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.
D006455 Hemoglobins, Abnormal Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains. Abnormal Hemoglobins
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D013785 Thailand Formerly known as Siam, this is a Southeast Asian nation at the center of the Indochina peninsula. Bangkok is the capital city. Kingdom of Thailand,Siam
D017085 alpha-Thalassemia A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. Hemoglobin H Disease,Thalassemia-alpha,A-Thalassemia,Alpha Thalassemia,Disease, Hemoglobin H,Thalassemia alpha,Thalassemia, Alpha,alpha-Thalassemias
D017353 Gene Deletion A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. Deletion, Gene,Deletions, Gene,Gene Deletions

Related Publications

Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Complex interaction of Hb Hekinan [alpha27(B8) Glu-Asp] and Hb E [beta26(B8) Glu-Lys] with a deletional alpha-thalassemia 1 in a Thai family.
May 2003, European journal of haematology,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Complex interaction of Hb E [beta26(B8)Glu-->Lys], Hb Korle-Bu [beta73(E17)Asp-->Asn] and a deletional alpha-thalassemia-1 in pregnancy.
January 2009, Hemoglobin,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Double heterozygosity for Hb Pyrgos [beta83(EF7)Gly-->Asp] and Hb E [beta26(B8)Glu-->Lys] found in association with alpha-thalassemia.
May 2002, Hemoglobin,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients.
July 2002, Annals of hematology,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Complex interaction of hemoglobin (Hb) Nakhon Ratchasima [α63(E12)Ala→Val], a novel α2-globin chain variant with Hb E [β26(B8)Glu→Lys] and a deletional α(+)-thalassemia.
July 2011, European journal of haematology,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Hb E [beta 26(B8)Glu----Lys] in a Czechoslovakian family.
January 1991, Hemoglobin,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families.
October 1978, Pathology,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Hb Westmead [alpha 122(H5)His----Gln], Hb E [beta 26(B8)Glu----Lys], and alpha-thalassemia-2 (3.7 Kb deletion) in a Laotian family.
January 1991, Hemoglobin,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Hemoglobin profile and molecular characteristics of the complex interaction of hemoglobin Doi-Saket [α9(A7) asn > lys, HBA2:c.30C > a], a novel α2α1 hybrid globin variant, with hemoglobin E [β26(B8) Glu > lys, HBB:c.79G > A] and deletional α+-thalassemia in a Thai family.
January 2023, Annals of medicine,
Supan Fucharoen, and Sunisa Chunpanich, and Kanokwan Sanchaisuriya, and Goonnapa Fucharoen, and Naowarat Kunyanone
Hb Hope [beta 136(H14) Gly----Asp] and Hb E [beta 26(B8)Glu----Lys]: compound heterozygosity in a Thai Mien family.
January 1992, Hemoglobin,
Copied contents to your clipboard!