Premium
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes
Author(s) -
Origa R.,
Sollaino M. C.,
Giagu N.,
Barella S.,
Campus S.,
Mandas C.,
Bina P.,
Perseu L.,
Galanello R.
Publication year - 2007
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2006.06423.x
Subject(s) - medicine , genotype , gastroenterology , blood transfusion , hemoglobin , pediatrics , ferritin , population , disease , immunology , biology , environmental health , gene , biochemistry
Summary 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 (‐ ‐/‐ α ) and 36 (14%) patients had the non‐deletional type (‐ ‐/ α ND α ). 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 μ g/l and in adults, was 192 ± 180 μ g/l in females and 363 ± 303 μ g/l in males. For the 98 male patients, a significant correlation was found between ferritin values and age ( r 2 = 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.