Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute splenic sequestration crisis (ASSC) in children with various forms of sickle cell disease can result in life-threatening circulatory collapse due to the loss of circulating blood volume. Over a 6-year period we have treated 12 patients ranging in age from 5 1/2 months to 7 years presenting with acute sequestration crisis. Eleven had homozygous sickle cell disease and the other had sickle-thalassemia. One patient died of acute circulatory collapse. Eight patients underwent splenectomy after a major episode of sequestration with no serious infectious complications up to 5 years following splenectomy. Three patients with minor episodes have been followed with no recurrences. To foster early detection of this potentially lethal complication of sickle cell disease, an educational program in our Comprehensive Sickle Cell Center instructs the parents to examine the spleen and bring their child in for evaluation if the spleen enlarges. A newly developed videotape describes the common symptoms of ASSC and illustrates the technique of palpating the spleen. With early detection of sickle cell disease by neonatal screening and the educational program, the morbidity and mortality from this complication of sickle cell disease can be reduced.
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PMID:Acute splenic sequestration crisis in sickle cell disease: early detection and treatment. 156 21

Bone marrow transplantation (BMT) from an HLA-identical donor is an established therapy to cure homozygous beta-thalassemia. Approximately 10% of thalassemic patients developed a persistent mixed chimerism (PMC) after BMT characterized by stable coexistence of host and donor cells in all hematopoietic compartments. Interestingly, in the erythrocytic lineage, close to normal levels of hemoglobin can be observed in the absence of complete donor engraftment. In the lymphocytic lineage, the striking feature is the coexistence of immune cells. This implies a state of tolerance or anergy, raising the issue of immunocompetence of the host. To understand the state of the T cells in PMC, repertoire analysis and functional studies were performed on cells from 3 ex-thalassemics. Repertoire analysis showed a profound skewing. This was due to an expansion of some T cells and not to a collapse of the repertoire, because phytohemagglutinin stimulation showed the presence of a complex repertoire. The immunocompetence of the chimeric immune systems was further established by showing responses to alloantigens and recall antigens in vitro. Both host and donor lymphocytes were observed in the cultures. These data suggest that the expanded T cells play a role in specific tolerance while allowing a normal immune status in these patients.
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PMID:Coexistence of two functioning T-cell repertoires in healthy ex-thalassemics bearing a persistent mixed chimerism years after bone marrow transplantation. 1055 53

Over the last few decades, the use of regular blood transfusions and adequate iron chelation beginning in the first years of life has modified the clinical picture and the natural course of thalassemia major. With the rise in the average age of these patients new problems have emerged, in particular bone disease: osteopenia, osteoporosis and the increased risk of fractures have become important causes of morbidity in a population whose longevity is continuously increasing. The Authors describe the case of a 41 year old patient affected by clinical thalassemia intermedia who presented with vertebral collapse after mild trauma. The physiopathology of osteoporosis and vertebral fractures in thalassemic patients and related management is presented.
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PMID:Vertebral collapse in thalassemia intermedia: case report. 1933 67

Avascular necrosis (AVNFH) of the femoral head is a relatively rare condition linked with numerous causes. If not treated promptly then arthritis may be inevitable, making hip replacement the only treatment option. In this case report we present a young AVNFH patient with history of heterozygous beta thalassemia. To our knowledge this is the second case where a thalassemia carrier presents AVNFH. Due to his age and pre-collapse stage, we elected to use a minimally invasive, femoral head sparing technique. Therefore, the patient underwent arthroscopy and fluoroscopy assisted core decompression followed by autograft and demineralized bone matrix application. Recovery was uneventful and a year after surgery femoral collapse did not progress. Moreover, the patient was pain free and capable of participating in sport activities. Even though it is difficult to describe a pathway linking heterozygous beta thalassemia with AVNFH, a possible relation between them cannot be discarded.
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PMID:Minimally invasive treatment of femoral head avascular necrosis in a beta thalassemia carrier. A case-report. 3147 46