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)

Sickle cell disease (SCD) is associated with many pathological and functional abnormalities affecting all organ systems. Renal manifestations of SCD may result in end-stage renal disease (ESRD), which can be treated by chronic haemodialysis or renal transplantation. Renal transplantation was successfully performed in a 25-yr-old male with sickle cell beta-thalassaemia and nephrotic syndrome. We present a case report of this patient, a discussion of the renal complications associated with SCD and the perioperative management of a patient with SCD undergoing renal transplantation.
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PMID:Anaesthesia for renal transplantation in sickle cell disease. 222 94

Acute splenic sequestration crisis (ASSC) is a rare complication in adults with sickle cell disease that is diagnosed clinically by means of sudden splenic enlargement and a rapid fall in hematocrit. Two cases of ASSC in adults with heterozygous sickle cell disease (sickle cell-thalassemia and sickle cell-hemoglobin C disease) were studied with use of duplex Doppler ultrasound (US), computed tomography (CT), and magnetic resonance (MR) imaging. In both cases, US showed patency of the splenic vein and multiple hypoechoic lesions on the periphery of an enlarged spleen that were of low attenuation on CT scans and hyperintense on both T1- and T2-weighted MR images. These findings were believed to be suggestive of subacute hemorrhage. This was confirmed pathologically in one case and suggested in the other by the presence of a low-signal-intensity ring, probably hemosiderin, surrounding one of the lesions. Also, the remainder of the spleen in both patients was of normal signal intensity, unlike the diminished signal intensity seen in patients with homozygous sickle cell disease. Further study is needed to determine the role of imaging in the diagnosis and treatment of ASSC.
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PMID:Acute splenic sequestration crisis in two adults with sickle cell disease: US, CT, and MR imaging findings. 224 76

The most common method of blood sample collection for neonatal screening programs for inherited diseases-blood spots on filter paper--is poorly suited for screening of sickle cell diseases by conventional assays because of the denaturing effects of this medium on hemoglobins that affect their electrophoretic identifications. The monoclonal antibody beta (6)-1 specifically recognizes the hemoglobin A beta-chain residue 6 (glutamic acid), that is, the normal counterpart of hemoglobins S and C, and this recognition is unaffected by changes in hemoglobins induced by filter paper storage. The beta (6)-1 immunoassay analysis of 67 prescreened samples extracted from filter paper permitted unambiguous group identification, by virtue of nonreactivity, of the pathologic sickle cell disease phenotypes SS (sickle cell anemia) and SC (sickle cell-hemoglobin C disease), along with the homozygous hemoglobin C phenotype (hemoglobin CC disease). Other phenotypes identified by beta (6)-1 nonreactivity would include S-beta(0) thalassemia, C-beta (0) thalassemia, and beta(0) thalassemia (Cooley's anemia). As systems for collecting newborn blood specimens on filter paper and their transmittal to centralized laboratories are already established in many states, this assay for sickle cell and hemoglobin C diseases could rapidly be combined with other mass screening programs for inborn errors of metabolism.
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PMID:Negative screening for sickle cell diseases with a monoclonal immunoassay on newborn blood eluted from filter paper. 224 58

Conjunctival vessels were examined with a slit-lamp and the abnormalities were graded in 77 patients with sickle cell diseases, including 48 with sickle cell anaemia, 17 with sickle cell beta (0)-thalassaemia and 12 with HbS/HbC disease. The study demonstrated the occurrence of similar conjunctival vessel abnormalities for the three sickle cell diseases which are, however, more severe in HbS homozygotes than in the two other genotypes. An increase of the severity of the vascular abnormalities with the increase of patient age was also observed for HbS homozygotes. The data suggest that the conjunctival lesions accumulate and increase in severity in a similar fashion as other tissue damages observed in sickle cell diseases.
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PMID:Conjunctival vessel abnormalities in sickle cell diseases: the influence of age and genotype. 227 43

Generally, individuals who are heterozygous to haemoglobin S (Hb AS) are asymptomatic and do not present any haematological or clinical manifestations. However, other associated genetic abnormalities may influence the presentation in Hb AS cases. This study was conducted on twenty children heterozygous for HB S who presented clinical manifestations similar to those of sickle cell anaemia. All these children had anaemia associated with several red cell morphological abnormalities. The white blood cell counts were elevated in all patients and differential count studies showed a substantial increase in lymphocytes and polymorphonuclear leucocytes in the majority of the cases. Forty-five per cent of the patients had associated alpha-thalassaemia, 60 per cent had beta-thalassaemia, 30 per cent had G-6-PD deficiency and 10 per cent had partial glutathione reductase deficiency. Pyruvate kinase activity was normal in all cases. Riboflavin deficiency was encountered in 30 per cent of the patients and iron deficiency in 15 per cent of these Hb S heterozygotes. The major clinical findings were splenomegaly, hepatomegaly, and vaso-occlusive crisis. The majority of the patients had received blood transfusions. The hand and foot syndrome was identified in three (15 per cent) of the patients. The haematological and clinical findings in these twenty Hb S heterozygotes are presented in this paper and the possible causes for these abnormalities are discussed.
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PMID:Case studies on haemoglobin S heterozygotes with severe clinical manifestations. 228 93

Fifty-eight subjects at high risk for hepatitis B were vaccinated with hepatitis B vaccine prepared by a DNA recombinant technique (Engerix B- Smith-Kline Biologicals) by the intradermal route with low doses (5 microgr) at 0, 15, 30 and 45 days on the volar surface of the arms. A positive immune response (100%) was found in all children (5 affected by thalassemia, 5 affected by sickle cell anaemia, 9 affected by neurological handicaps) and in all healthy medical staff. None showed side-effects and the small pigmented macula following vaccination disappeared after a few months. Since the World Health Organization proposed a program of mass vaccination in highly endemic areas for hepatitis B, the authors suggest that the use of the new engineered vaccine in low doses by the intradermal route could represent an effective strategy to realize this project.
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PMID:Immune response of subjects at high risk of hepatitis B to a new genetically engineered hepatitis B vaccine administered in low doses by the intradermal route. 228 16

Disorders of hemoglobin synthesis affect the musculoskeletal system by either causing replacement of bone by hematopoietic tissue, precipitating bone and soft tissue ischemia and necrosis, or a combination of both processes. Less frequently, joints are involved by synovial ischemia, synovial deposition of iron, or microfracture of subchondral bone. Osteopenia is a significant problem in both thalassemia and sickle cell anemia and may result in vertebral and long bone fractures. Growth disturbances are frequently seen but are not often appreciated until adolescence because of improved hematologic management. The cause of the growth problems is multifactorial and may be related to hormonal deficiencies, iron overload, hypoxia, or local trauma to the growth plate secondary to significant osteopenia.
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PMID:Musculoskeletal problems in hemoglobinopathy. 229 57

Pain control using intramuscular analgesia is often unsatisfactory in sickle cell patients. In a pilot study, 15 patients with sickle cell anemia (SS) and one patient with SB thalassemia in vaso-occlusive crisis were treated with the Patient-Controlled Analgesia (PCA) technique using a Pharmacia Deltec Programmable pump (CADD PCA). Age range was 19-50 years (median = 27); there were nine females and seven males. The protocol consisted of 3 days of therapy using a background of continuous infusion meperidine. The starting dose was 20 mg/hr and was escalated to 30 mg/hr. The average amount given was 25.8 mg/hr. One to two boluses of 2.5-5.0 mg/dose (mode = 5.0) were also allowed each hour. In addition, patients number 8 through 16 were given hydroxyzine (Vistaril) 50 mg PO q6h. The number of days in pain prior to study entry (mean +/- SD) was 3.3 +/- 1.6. The number of pain sites per patient was 3.6 +/- 1.2. Using categorical and analog pain scales, patients' pain scores decreased only about 30%. However, most patients were fairly satisfied with the treatment and rated it overall as follows: 1 poor, 1 fair, 3 good, 6 very good, 4 excellent, 1 no comment. Patients number 8 through 16 gave higher ratings probably because a more idealized dosage regimen was being used by that time in the study. There were no adverse effects or major problems noted. It is our impression that PCA, when optimized, will be a safe and effective alternative method for providing patients with sickle cell vaso-occlusive crisis pain relief.
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PMID:Patient-controlled analgesia in patients with sickle cell vaso-occlusive crisis. 229 91

Dot blot analysis on enzymatically amplified trophoblast DNA with allele specific oligonucleotide probes is currently used for the prenatal diagnosis of single gene disorders characterised at the molecular level, such as the beta thalassaemias, phenylketonuria, sickle cell anaemia, and alpha 1-anti-trypsin deficiency. A potential problem with the use of this procedure is the co-amplification of maternal sequences, which may obscure the diagnosis in the fetus. To address this question, we carried out prenatal diagnosis of beta thalassaemia in 300 couples at risk by dot blot analysis on enzymatically amplified DNA with 32P or horseradish peroxidase labelled allele specific oligonucleotide probes. We verified the diagnosis obtained by this procedure with oligonucleotide hybridisation on electrophoretically separated non-amplified trophoblast DNA fragments. We detected no co-amplified maternal sequences, even with a faint signal, in the dot blot of trophoblast DNA from those fetuses diagnosed as normal or homozygotes, nor in those diagnosed as heterozygotes, who were born to parents carrying different mutations and had inherited the paternal mutation. These results indicate that, when careful dissection of trophoblast tissue from maternal decidua is carried out, amplification of chorionic villi DNA is not associated with amplification of maternal DNA sequences. We may thus conclude that dot blot analysis of trophoblast DNA is a very reliable procedure for prenatal diagnosis.
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PMID:Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNA. 232 4

With the technique of laser-Doppler velocimetry, cutaneous blood flows in the forearm of patients with stable sickle cell disease after graded periods of proximal ischemia were compared with normal subjects matched for age, race, and sex, and with patients with anemia caused by beta(+)-thalassemia. In the sickle cell patients the reactive hyperemia was characterized by an increased time interval between the release of the occlusion and the peak amplitude response (time-to-peak) and by a greater period of blood flow above the base-line value (payback ratio) compared with controls. In addition, prolongation of the occlusion period led to an augmentation in the magnitude of the characteristic basal flow oscillations or an induction of this phenomenon at sites not exhibiting it before ischemia. Base-line or ischemia-provoked flow oscillations of either this magnitude or frequency were only observed in normal or thalassemic controls during brief intervals in the rapidly decaying portion of the hyperemic response and in one subject with homozygous hemoglobin C disease. These results would support a model of a local integrative control of microcirculatory blood flow, which appears to become augmented, synchronized, and sustained in sickle cell subjects.
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PMID:Microcirculatory adaptations in sickle cell anemia: reactive hyperemia response. 240 12


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