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Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes
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| Zeitschriftentitel: | British Journal of Haematology |
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| Personen und Körperschaften: | , , , , , , , , |
| In: | British Journal of Haematology, 136, 2007, 2, S. 326-332 |
| Format: | E-Article |
| Sprache: | Englisch |
| veröffentlicht: |
Wiley
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| Schlagwörter: |
| Zusammenfassung: | <jats:title>Summary</jats:title><jats:p>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 (‐ ‐/‐<jats:italic>α</jats:italic>) and 36 (14%) patients had the non‐deletional type (‐ ‐/<jats:italic>α</jats:italic><jats:sup>ND</jats:sup><jats:italic>α</jats:italic>). 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 <jats:italic>μ</jats:italic>g/l and in adults, was 192 ± 180 <jats:italic>μ</jats:italic>g/l in females and 363 ± 303 <jats:italic>μ</jats:italic>g/l in males. For the 98 male patients, a significant correlation was found between ferritin values and age (<jats:italic>r</jats:italic><jats:sup>2</jats:sup> = 0·33, <jats:italic>P</jats:italic> < 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.</jats:p> |
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| Umfang: | 326-332 |
| ISSN: |
0007-1048
1365-2141 |
| DOI: | 10.1111/j.1365-2141.2006.06423.x |