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)

Quantitative glycogen determinations can be made in single blood and bone marrow cells, using microspectrophotometry or microfluorometry after staining with variants of the periodic acid--Schiff (PAS) reaction. These PAS variant reactions generally do not indicate the presence of non-glycogen PAS-positive substances, known to be prevalent in various hematopoietic cells, possibly due to masking of reactive groups. The specificity of the reaction in blood cells was ascertained by alpha-amylase digestion, which removed more than 95% of the PAS-positive material. Calibration of the PAS reaction was undertaken with a microdroplet model of pure leukocyte glycogen. The glycogen amounts in the droplets were determined by microinterferometry, the droplets were stained with a variant PAS reaction, and the total extinction of the reaction product in the stained droplets was determined by microspectrophotometry. The extinction coefficient (k) was obtained from the equation k equals Etot divided by M where (Etot) is the total extinction as determined by microspectrophotometry and (M) the dry glycogen amount as determined by microinterferometry. The microinterferometric dry mass determinations were calibrated by X-ray absorption in order to obtain the absolute amounts of glycogen. For practical purposes a reference system was made of normal neutrophil leukocytes. The glycogen content in the reference neutrophils was first determined with the micromodel. These neutrophils, now with a known glycogen amount, were stained with the PAS reagents and measured microspectrophotometrically in parallel with cells containing an unknown glycogen amount. Alternatively, the staining was made with a fluorescent PAS reaction, and the glycogen content determined by microfluorometry. Both methods appeared suitable for determining the glycogen content of blood cells from patients with various diseases, though the microfluorometric method was preferable for measurements of small amounts of inhomogeneously distributed glycogen. The mean glycogen content of normal neutrophil leukocytes was found to be 13.6 times 10(-12) g. The content was increased in infectious diseases such as pneumonia and tonisillitis, as well as in polycythemia vera and myelofibrosis, while low amounts were found in untreated chronic myelocytic leukemia. In chronic myelocytic leukemia in remission, the glycogen content of mature neutrophils had completely normalized. Erythroblasts normally do not contain detectable amounts of glycogen. However, in certain diseases such as beta-thalassemia and Di Guglielomo's syndrome, appreciable amounts of glycogen accumulate in the erythropoietic precursor cells. In beta-thalassemia this was associated with an arrest in the proliferation of early polychromatic erythroblasts, which accumulate glycogen in the G1 phase of the cell cycle. In all these diseases quantitative glycogen determinations in the blood cells have diagnostic importance.
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PMID:Quantitative cytochemistry of glycogen in blood cells. Methods and clinical application. 107 52

Forty-three patients with hematopoietic disease were treated with intensive chemotherapy and radiotherapy, followed by allogeneic bone marrow transplantation (BMT) from 28 HLA-identical and 10 one to two antigen haploidentical sibling donors and autologous BMT (5 cases). Of these cases, there were 21 with acute nonlymphocytic leukemia (ANLL), 5 with acute lymphocytic leukemia (ALL), 6 with chronic myelocytic leukemia (CML), 2 with Hodgkin's disease (HD), 8 with severe-form aplastic anemia (SAA) and 1 with thalassemia. Complications of BMT were evaluated including acute graft-versus-host disease (GVHD), interstitial pneumonia (IP), veno-occlusive liver disease (VOD), abnormalities of liver function (LF), and alteration of hepatitis B virus (HBV) markers. In thirty-three patients who were followed up for more than 3 months, we found that the incidence of moderate to severe acute GVHD (9.1%) and IP (two cases, 4.7%) were low. No VOD occurred in our series. During the follow-up period, 27 out of 35 patients (77%) had high alanine aminotransferase (ALT)/aspartate aminotransferase (AST) levels, even up to 1000 U/liter; however, only one patient succumbed to a hepatitis-related complication. Previous hepatic damage from HBV infection before BMT does not appear to increase the risk of posttransplant morbidity and mortality.
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PMID:Complications of bone marrow transplantation in Chinese. 232 72

An increasing number of diseases may be treated successfully by allogeneic bone marrow transplantation (BMT). Initially used for the treatment of immunodeficiency where a cell series or product is replaced, it has now become routine treatment for many forms of leukemia where the transplant provides the rescue after lethal marrow ablation. Recently, diseases such as thalassemia and other inherited metabolic diseases have also been treated by BMT. Formerly the problems of BMT were mainly concerned with graft versus host disease (GVHD) in HLA-matched transplants with HLA-mismatched ones not being possible as GVHD was usually fatal. Since the development of techniques for T cell removal the incidence of GVHD has greatly diminished. T cell removal has also allowed HLA haploidentical mismatched grafts to be performed successfully for immunodeficiency, but there is still a high graft rejection rate in leukemia. This also occurs to a lesser extent with HLA-matched grafts in leukemia. Furthermore, in certain forms of leukemia, particularly chronic granulocytic leukemia, the relapse rate after T cell-depleted BMT is much higher. Trials of better forms of bone marrow conditioning of the recipient are being attempted in order to prevent graft rejection and leukemia relapse. These include total lymphoid irradiation, heavier irradiation and chemotherapeutic regimens, or the use of in vivo monoclonal antibodies such as CAMPATH 1G or anti-LFA-1 (CD11a). In the future, positive selection of stem cells combined with hemopoietic growth factors may allow engraftment without graft versus host disease. This should become the method of choice for autologous transplantation for malignancy. Two monoclonal antibodies directed against the human progenitor cell antigen 1 (HPCA-1) (CD34) have been used for autologous positive stem cell selection in primates and these cells gave full hemopoietic reconstitution in the animals following lethal total body irradiation.
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PMID:Recent advances in bone marrow transplantation. 256 39

Malignant hemopathies and immune deficiencies are the main indications for allogeneic bone marrow transplantation in children. Among the former, the most common condition is acute lymphoblastic leukemia, in which a bone marrow transplant can be performed during the second or first complete remission (CR). Thirty to 50% and 60 to 75% of these grafts, respectively, are successful. The success rate is 50 to 70% among patients with acute myeloblastic leukemia grafted during the first complete remission, and among patients with chronic myeloid leukemia grafted during the chronic phase. Severe medullary aplasia and Fanconi disease are undoubtedly good indications for bone marrow transplantation, which has a 60 to 70% success rate. Severe combined immune deficiencies (SCID) and Wiskott-Aldrich disease are also good indications for HLA-identical bone marrow transplantation, which is successful in 60% of cases. Among the metabolic diseases, good results have been obtained only in Hurler disease and Gaucher disease. Questionable indications include thalassemia, Blackfan-Diamond disease, and chronic granulomatous disease. Results are disappointing in most metabolic diseases, as well as in non-HLA-identical transplantations in diseases other than SCID.
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PMID:[Allogeneic bone marrow grafts in children. Indications and results]. 268 52

The major barriers to successful bone marrow transplantation (BMT) are graft-versus-host disease (GVHD), infection, rejection and relapse. The combination of methotrexate and cyclosporin is significantly better than either alone in controlling GVHD. Removal of T cells from donor marrow prior to BMT has also decreased GVHD significantly, but a 5-10% rejection rate occurs and an increased relapse risk is being reported by some centres. Cyclosporin is valuable in the treatment of both acute and chronic GVHD. Interstitial pneumonitis due to cytomegalovirus (CMV) is a major cause of mortality. Protection can be provided with CMV hyperimmune globulin and also by the avoidance of blood donors who are CMV antibody positive. Fractionated total body irradiation is associated with decreased toxicity compared to single dose. There is a 75% 4 year disease-free survival following BMT for acute non-lymphoblastic leukemia in first remission, a 50% survival for acute lymphoblastic leukemia in second remission and an 88% survival for chronic myeloid leukemia in chronic phase. BMT for beta-thalassaemia major in young patients without organ dysfunction cures 80% of patients and identical results are achieved for severe aplastic anaemia when BMT is undertaken prior to blood product transfusion.
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PMID:Recent advances in bone marrow transplantation. 332 11

Bone marrow transplantation is increasingly used to treat a spectrum of diseases in man, including immune and genetic disorders, hematological diseases, and cancer. Approximately 11,000 transplants have been performed worldwide since 1970. About two-thirds of these transplants have involved donors, including related and unrelated individuals, and in the remaining third the patient's bone marrow has been used in the form of an autotransplant. In some disorders and under carefully defined circumstances, bone marrow transplantation appears to be the preferred therapy; these diseases include aplastic anemia, acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, and selected immune and genetic disorders. In other circumstances, the value of bone marrow transplantation is less well defined. Diseases in which bone marrow transplantation may be of benefit include Hodgkin's and non-Hodgkin's lymphoma, other cancers, thalassemia, hemoglobinopathies, genetic disorders, and possibly multiple myeloma. It has been difficult to precisely identify the role of bone marrow transplantation in many of these diseases. Prospective randomized controlled clinical trials have sometimes shown an advantage for bone marrow transplantation, but in most circumstances a benefit is as yet unproven. In the U.S. the annual incidence of individuals with diseases in which bone marrow transplantation is thought to be of proven benefit is approximately 5,400, and an additional 15,000 individuals annually have diseases in which bone marrow transplantation is thought to be of possible benefit. This study reviews data available from both controlled and uncontrolled clinical trials indicating the potential role of bone marrow transplantation in the treatment of human diseases.
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PMID:Clinical trials of bone marrow transplantation. 352 45

Classification of platelet disorders has been based on the platelet count. Addition of a second variable, mean platelet volume (MPV), to the routine blood count allows classification of patients into 9 categories: high, low, or normal MPV, and high, low or normal platelet count. We studied 1,244 adult inpatients. 1,134 had both platelet values normal. 11 patients had high MPV and low platelet count: all had hyperdestructive causes. 15 patients had high MPV and normal platelet count: 12 had heterozygous thalassemia, and three had iron deficiency. Seven patients had high MPV and high platelet count: causes included myeloproliferative disorders, inflammation, iron deficiency, and splenectomy, 25 patients had high platelet counts and normal MPV: the causes were inflammation, infection, sickle cell anemia, iron deficiency, or chronic myelogenous leukemia. 52 patients had an MPV that was inappropriately low for the platelet count (high, normal, or low). All had sepsis, splenomegaly, aplastic anemia, chronic renal failure, or a disease being treated with myelosuppressive drugs. High MPV thus appears correlated with myeloproliferative disease or thalassemia; and low MPV, with cytotoxic drugs or marrow hypoplasia. Addition of MPV to the platelet count allows subtler disorders to be detected (when the platelet count is normal), and allows distinction of the cause of thrombocytopenia.
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PMID:Use of mean platelet volume improves detection of platelet disorders. 407 87

Four cases of endometrial extramedullary haemopoiesis are reported, all with associated haematological disease. The diagnoses of a myeloproliferative disorder and thalassaemia trait were made as a consequence of the histological observations and subsequent haematological investigations in two cases. The third case occurred in a patient with an established diagnosis of chronic myeloid leukaemia. The diagnosis of extramedullary haemopoiesis in the final case was made on autopsy material from a patient with multiple myeloma. The endometrium from five other women with known myelofibrosis was examined but extramedullary haemopoiesis was not found. Endometrium from 32 fetuses did not contain haemopoietic elements, excluding the likelihood of the endometrium being a common site for extramedullary haemopoiesis in development. Endometrial extramedullary haemopoiesis is an uncommon finding, but it is worthy of note, as it may herald the presence of an underlying haematological abnormality.
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PMID:Endometrial extramedullary haemopoiesis. 761 62

Bone marrow transplantation (BMT) is one of the most effective procedures to cure the previously uncured hematologic diseases. However, it is costly and HLA typing to select the compatible donors contributed to its cost. A total of 53 prospective patients for BMT and their 114 siblings were analyzed to evaluate the use of locally prepared HLA-ABC common typing tray (ABCCT) during Mar 1988-Mar 1992. The 16, 9, 7, 5, 5 and 12 patients were diagnosed as aplastic anemia, CML, thalassemia, ALL, ANLL and other blood diseases, respectively. It was found that 18 patients were HLA-identical (HLA-ID) with one of their siblings except one patient had 2 HLA-ID sibs. All of those who appeared to be HLA-ID were further tested for the HLA-ABCDR typings. It was observed that 16 (88.89%) of 18 patients and 17 (89.47%) of 19 sibs were confirmed as HLA-ID. After careful clinical screening, only 13 HLA-ID pairs were able to proceed to the mixed lymphocyte culture and confirmed their status of HLA-ID by this test. Finally, only 6 (46.15%) of 13 patients received BMT with a high rate of success, ie all patients have survived with bone marrow engraftment. Thus, ABCCT is very useful for related BMT. It was highly efficient to exclude HLA-non-ID and haplo-ID yet the cost and workload were greatly reduced.
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PMID:The value of HLA-ABC common typing tray in relation to bone marrow transplantation. 788 91

Seventy-three BMT procedures (42 allogeneic-BMT, 30 autologous-BMT, 1 syngeneic transplant) were undertaken at the Shariati Hospital in Tehran between March 1991 and November 1993. Allogeneic-BMT was performed for thalassaemia major (n = 23), AML in complete remission (n = 3), severe aplastic anaemia (n = 7), CML (n = 7), dyskeratosis congenita (n = 2) and Fanconi anaemia (n = 1). Conditioning regimens comprised busulphan (BU) plus cyclophosphamide (CY) or CY only. Thirty-two (78%) of the 43 patients remain alive 1-34 months after BMT. Twelve patients died: the causes of death were haemorrhagic cystitis (n = 1), CMV pneumonitis (n = 1), GVHD (n = 3), infection (n = 3), rejection (n = 1), VOD (n = 2) and hepatitis (n = 1). Autologous-BMT was performed for patients with AML in CR (n = 16), ALL in CR (n = 9), lymphoma in relapse (n = 3), Ewing sarcoma (n = 1) and multiple myeloma (n = 1). The median age was 18 years. Conditioning regimens were Ara C plus CY, etoposide plus CY and high-dose melphalan. Sixteen (54%) of the 30 patients survive, 14 in continuous complete remission. The causes of death were relapse (AML (n = 7), ALL (n = 4), lymphoma (n = 1)), VOD (n = 1) and infection (n = 1).
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PMID:Bone marrow transplantation in Iran. 792 Mar 8


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