Source:http://linkedlifedata.com/resource/pubmed/id/17129226
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
2007-1-19
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Jan
|
| pubmed:issn |
0007-1048
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
136
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
326-32
|
| pubmed:dateRevised |
2011-11-17
|
| pubmed:meshHeading |
pubmed-meshheading:17129226-Adolescent,
pubmed-meshheading:17129226-Adult,
pubmed-meshheading:17129226-Aged,
pubmed-meshheading:17129226-Anemia, Aplastic,
pubmed-meshheading:17129226-Blood Transfusion,
pubmed-meshheading:17129226-Chi-Square Distribution,
pubmed-meshheading:17129226-Child,
pubmed-meshheading:17129226-Child, Preschool,
pubmed-meshheading:17129226-Echocardiography,
pubmed-meshheading:17129226-Female,
pubmed-meshheading:17129226-Ferritins,
pubmed-meshheading:17129226-Gene Deletion,
pubmed-meshheading:17129226-Genotype,
pubmed-meshheading:17129226-Hemoglobin H,
pubmed-meshheading:17129226-Humans,
pubmed-meshheading:17129226-Infant,
pubmed-meshheading:17129226-Infant, Newborn,
pubmed-meshheading:17129226-Iron Overload,
pubmed-meshheading:17129226-Italy,
pubmed-meshheading:17129226-Male,
pubmed-meshheading:17129226-Middle Aged,
pubmed-meshheading:17129226-Parvoviridae Infections,
pubmed-meshheading:17129226-Parvovirus B19, Human,
pubmed-meshheading:17129226-Phenotype,
pubmed-meshheading:17129226-Polymerase Chain Reaction,
pubmed-meshheading:17129226-Pregnancy,
pubmed-meshheading:17129226-Pregnancy Complications,
pubmed-meshheading:17129226-Transferrin,
pubmed-meshheading:17129226-alpha-Thalassemia
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes.
|
| pubmed:affiliation |
Department of Biomedical and Biotechnological Sciences, Ospedale Regionale Microcitemie-ASL 8, University of Cagliari, Cagliari, Italy.
|
| pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|