title: Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes.
abstract: In this study, 251 Sardinian patients (187 adults and 64 children) with haemoglobin (Hb) H disease were evaluated. Two-hundred and sixteen patients (86%) had the deletional type (- -/-alpha) and 36 (14%) patients had the non-deletional type (- -/alpha(ND)alpha). A clear genotype-phenotype correlation was found, with the non-deletional type more severe than the deletional type. Diagnosis of Hb H disease was incidental in about 60% of cases. Aplastic crises due to B19 parvovirus infection were found in five patients (2.1%), while 23 patients (9.6%) experienced one or more haemolytic crises. Nineteen patients with Hb H received sporadic red blood cell transfusions and three patients were repeatedly transfused. Forty-seven of 61 married women (77%) had 82 pregnancies. In children, mean serum ferritin was 87 +/-92 mug/l and in adults, was 192 +/- 180 mug/l in females and 363 +/- 303 mug/l in males. For the 98 male patients, a significant correlation was found between ferritin values and age (r2 = 0.33, P < 0.0001). In the Sardinian population, Hb H disease needs regular monitoring for early detection and treatment of possible complications, such as worsening of anaemia that may require red cell transfusion, cholelithiasis and iron overload.
authors.affiliation: Department of Biomedical and Biotechnological Sciences, Ospedale Regionale Microcitemie-ASL 8, University of Cagliari, Cagliari, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Origa
authors.forename: M C
authors.initials: MC
authors.lastname: Sollaino
authors.forename: N
authors.initials: N
authors.lastname: Giagu
authors.forename: S
authors.initials: S
authors.lastname: Barella
authors.forename: S
authors.initials: S
authors.lastname: Campus
authors.forename: C
authors.initials: C
authors.lastname: Mandas
authors.forename: P
authors.initials: P
authors.lastname: Bina
authors.forename: L
authors.initials: L
authors.lastname: Perseu
authors.forename: R
authors.initials: R
authors.lastname: Galanello
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000741:Anemia, Aplastic / Q000821:virology; D001803:Blood Transfusion; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D005293:Ferritins / Q000032:analysis; D017353:Gene Deletion; D005838:Genotype; D006447:Hemoglobin H / Q000032:analysis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D019190:Iron Overload / Q000150:complications; D007558:Italy; D008297:Male; D008875:Middle Aged; D010322:Parvoviridae Infections / Q000097:blood / Q000150:complications; D016732:Parvovirus B19, Human; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011248:Pregnancy Complications / Q000097:blood / Q000235:genetics* / Q000628:therapy; D014168:Transferrin / Q000032:analysis; D017085:alpha-Thalassemia / Q000097:blood / Q000235:genetics* / Q000628:therapy
chemical_list: D014168:Transferrin; D005293:Ferritins; D006447:Hemoglobin H