title: Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease.
abstract: We report two cases of compound heterozygote patients for the --(MED I) and Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] anomalies in two unrelated Greek Cypriot families. The first patient had a serious form of Hb H disease and died at the age of 21 due to complications arising during an operation. The second patient showed a severe hematological picture and has been regularly transfused since an early age. This patient exhibits bone abnormalities as well as hepatosplenomegaly. The severity of these two incidences emphasizes the need for the inclusion of a screening test for the --(MED I)/alpha(Agrinio)alpha genotype among those already offered during prenatal diagnosis. Two homozygotes, as well as a number of simple, compound, and double heterozygotes for Hb Agrinio have been identified in Cyprus and their hematological indices are presented.
authors.affiliation: The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
authors.forename: Xenia
authors.initials: X
authors.lastname: Felekis
authors.forename: Marios
authors.initials: M
authors.lastname: Phylactides
authors.forename: Anthi
authors.initials: A
authors.lastname: Drousiotou
authors.forename: Sotiroulla
authors.initials: S
authors.lastname: Christou
authors.forename: Andreani
authors.initials: A
authors.lastname: Kyrri
authors.forename: Kyriakos
authors.initials: K
authors.lastname: Kyriakou
authors.forename: Eleni
authors.initials: E
authors.lastname: Kalogerou
authors.forename: George
authors.initials: G
authors.lastname: Christopoulos
authors.forename: Marina
authors.initials: M
authors.lastname: Kleanthous
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D003535:Cyprus; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D012720:Severity of Illness Index; D013789:Thalassemia / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal