title: Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling.
abstract: OBJECTIVE
  Nearly 1183 different molecular defects of the globin genes leading to hemoglobin variants have been identified (http://globin.bx.psu.edu) over the past decades. The purpose of this study was to report three cases, never described in the literature, of co-inheritance of three β hemoglobin variants with other alterations in globin genes and to evaluate the clinical significance to conduct an appropriate genetic counseling.
  
  
  METHODS
  We report the molecular study performed in three probands and their families, sampling during the screening program conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia-Cervello Hospital in Palermo, Italy.
  
  
  RESULTS
  This work allowed us to describe the co-inheritance of three rare β hemoglobin variants with other alterations in globin genes: the β hemoglobin variant Hb Yaounde [β134(H12)Val>Ala], found for the first time in combination with ααα(anti3.7) arrangement, and the β hemoglobin variants Hb Görwihl [β5(A2)Pro>Ala] and Hb City of Hope [β69(E13)Gly>Ser], found both in association with β(0) -thalassemia.
  
  
  CONCLUSIONS
  The present work emphasizes the importance of a careful evaluation of the hematological data, especially in cases of atypical hematological parameters, to carry out an adequate and complete molecular study and to formulate an appropriate genetic counseling for couples at risk.
authors.affiliation: Department of Hematology for rare diseases of blood and blood-forming organs, Regional Reference Laboratory for screening and prenatal diagnosis of hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
authors.forename: Margherita
authors.initials: M
authors.lastname: Vinciguerra
authors.forename: Cristina
authors.initials: C
authors.lastname: Passarello
authors.forename: Filippo
authors.initials: F
authors.lastname: Leto
authors.forename: Filippo
authors.initials: F
authors.lastname: Cassarà
authors.forename: Monica
authors.initials: M
authors.lastname: Cannata
authors.forename: Aurelio
authors.initials: A
authors.lastname: Maggio
authors.forename: Antonino
authors.initials: A
authors.lastname: Giambona
mesh_terms: D000328:Adult; D000368:Aged; D004909:Erythrocyte Indices; D005260:Female; D005817:Genetic Counseling; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D007558:Italy; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D017422:Sequence Analysis, DNA; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics; D055544:beta-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; D055544:beta-Globins; C470779:hemoglobin Görwihl; C434205:hemoglobin Yaounde; C043006:hemoglobin City of Hope
keywords: Hb City of Hope; Hb Görwihl; Hb Yaounde; genetic counseling; hemoglobinopathies; αααanti 3.7 arrangement