+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn

Compound heterozygosity for hemoglobin S [beta6(A3)Glu6Val] and hemoglobin Korle-Bu [beta73(E17)Asp73Asn

Laboratory Hematology 15(3): 20-24

We report a case of compound heterozygous hemoglobins S [beta6(A3)Glu6Val] and Korle-Bu [beta73(E17)Asp73Asn] in a 2-year-old girl. This hemoglobin genotype is associated with a benign clinical course, much like the sickle cell trait; however, its laboratory characteristics are very similar to compound heterozygous hemoglobin S and hemoglobin D-Los Angeles [beta121(GH4)Glu121Gln], which produces severe sickling hemolytic anemia. We describe laboratory data used to resolve this important differential diagnosis and review the interactions between hemoglobin S and the variant hemoglobins that may account for the different clinical phenotypes in compound heterozygotes.

Please choose payment method:

(PDF emailed within 1 workday: $29.90)

Accession: 052269084

Download citation: RISBibTeXText

PMID: 19758965

Related references

Compound heterozygosity for hemoglobin C and hemoglobin Korle-Bu. Laboratory Hematology 14(3): 30-34, 2008

Hemoglobin Korle-Bu [beta73(E17)Asp ->Asn]. First cases described in Spain. Medicina Clinica 123(7): 260-261, 2004

Compound heterozygosity for hemoglobin and Korle-Bu: Moderate microcytic hemolytic anemia and acceleration of crystal formation. Blood 82(6): 1907-1912, 1993

Diagnosis of a novel hemoglobinopathy of compound heterozygosity of hemoglobin S/hemoglobin Q India. Clinica Chimica Acta; International Journal of Clinical Chemistry 442: 33-35, 2015

Hemoglobin pyrgos alpha2 beta2 83 (EF7) Gly leads to Asp: a new hemoglobin variant in double heterozygosity with hemoglobin S. Blood 47(5): 827-832, 1976

Atypical hemoglobin H disease in a Thai patient resulting from a combination of alpha-thalassemia 1 and hemoglobin Constant Spring with hemoglobin J Bangkok heterozygosity. European Journal of Haematology 66(5): 312-316, 2001

Hemoglobin Korle-Bu (G-ACCRA) in combination with hemoglobin C. American Journal of Hematology 42(4): 412-412, 1993

Differentiation of homozygous hemoglobin E from compound heterozygous hemoglobin E-beta O-thalassemia by hemoglobin E mutation analysis. Journal of Pediatrics 120(5): 775-779, 1992

Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori. New England Journal of Medicine 325(16): 1150-1154, 1991

Compound heterozygosity for hemoglobin S and D: what do we need to know?. Revista Brasileira de Hematologia E Hemoterapia 38(3): 188-189, 2016

A new sickling variant 'Hb S-Wake β[(Glu6Val-Asn139 Ser)]' found in a compound heterozygote with Hb S β(Glu6Val) coinherited with homozygous α-thalassemia-2: phenotype and molecular characteristics. Acta Haematologica 124(2): 120-124, 2010

Compound heterozygosity for hemoglobin E-Saskatoon and ß-thalassemia. Journal of Obstetrics and Gynaecology Research 36(5): 1148, 2011

Compound heterozygosity for hemoglobin Knossos Ala - Ser and IVS I - 1 mutation. Turkish Journal of Pediatrics 39(2): 253-256, 1997

Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation. Turkish Journal of Pediatrics 39(2): 253-257, 1997

Frequency of hemoglobin E/β-thalassemia compound heterozygotes with low hemoglobin F phenotype among cases with a diagnosis of hemoglobin E homozygote, determined by high-performance liquid chromatography, in prenatal control program for β-thalassemia. Annals of Hematology 96(10): 1763-1765, 2017