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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 |
|---|---|
| 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: |
| author_facet |
Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. |
|---|---|
| author |
Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. |
| spellingShingle |
Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. British Journal of Haematology Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes Hematology |
| author_sort |
origa, r. |
| spelling |
Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. 0007-1048 1365-2141 Wiley Hematology http://dx.doi.org/10.1111/j.1365-2141.2006.06423.x <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> Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes British Journal of Haematology |
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| title |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_unstemmed |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_full |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_fullStr |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_full_unstemmed |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_short |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_sort |
clinical and molecular analysis of haemoglobin h disease in sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| topic |
Hematology |
| url |
http://dx.doi.org/10.1111/j.1365-2141.2006.06423.x |
| publishDate |
2007 |
| physical |
326-332 |
| description |
<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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| author | Origa, R., Sollaino, M. C., Giagu, N., Barella, S., Campus, S., Mandas, C., Bina, P., Perseu, L., Galanello, R. |
| author_facet | Origa, R., Sollaino, M. C., Giagu, N., Barella, S., Campus, S., Mandas, C., Bina, P., Perseu, L., Galanello, R., Origa, R., Sollaino, M. C., Giagu, N., Barella, S., Campus, S., Mandas, C., Bina, P., Perseu, L., Galanello, R. |
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| description | <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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| institution | DE-Gla1, DE-Zi4, DE-15, DE-Pl11, DE-Rs1, DE-105, DE-14, DE-Ch1, DE-L229, DE-D275, DE-Bn3, DE-Brt1, DE-Zwi2, DE-D161 |
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| spelling | Origa, R. Sollaino, M. C. Giagu, N. Barella, S. Campus, S. Mandas, C. Bina, P. Perseu, L. Galanello, R. 0007-1048 1365-2141 Wiley Hematology http://dx.doi.org/10.1111/j.1365-2141.2006.06423.x <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> Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes British Journal of Haematology |
| spellingShingle | Origa, R., Sollaino, M. C., Giagu, N., Barella, S., Campus, S., Mandas, C., Bina, P., Perseu, L., Galanello, R., British Journal of Haematology, Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes, Hematology |
| title | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_full | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_fullStr | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_full_unstemmed | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_short | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_sort | clinical and molecular analysis of haemoglobin h disease in sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| title_unstemmed | Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes |
| topic | Hematology |
| url | http://dx.doi.org/10.1111/j.1365-2141.2006.06423.x |