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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 27-month-old patient with SOArab hemoglobinopathy complicated by purpura fulminants was studied with 99mTc-pyrophosphate. The study showed an absence of radiotracer in the bones of both feet and the distal portions of both hands, along with an increased concentration of radiotracer proximal to the regions of absent radiotracer. Subsequent amputation of the distal portions of all four extremities was necessary because of dry gangrene. The amputation site in each extremity (selected on clinical grounds only) corresponded closely to the junction of absent and increased bone radiotracer, suggesting that bone imaging may be used as an aid in determining the extent of nonviable tissue in similar patients.
J Nucl Med 1976 Dec
PMID:Delineation of peripheral bone infarcts in a child with a rare hemoglobinopathy (SOArab) and purpura fulminans: case report. 18 69

Two individual cases in which mental nerve paresthesia developed concurrently with sickle-cell crisis are described. A brief review of the hemoglobinopathies follows, with genetic considerations and clinical manifestations discussed.
Oral Surg Oral Med Oral Pathol 1979 Dec
PMID:Mental nerve paresthesia secondary to sickle-cell crisis. 29 54

In this article we have surveyed the current state of knowledge regarding the accumulation of globin mRNA and hemoglobin in red cells. We have attempted to examine the interplay of numerous processes that seem to be necessary to achieve this highly differentiated state. Finally, we have made an effort to formulate some of the mechanisms whereby individual red cells may come to contain varying proportions of specific hemoglobins. The past several years have been characterized by a veritable explosion of knowledge concerning the globin structure genes, and the structure, transcription, processing and function of globin mRNA in erythroid cells. It now seems possible to analyze the earlier stages of erythropoiesis by cultivation and examination of erythroid colonies in vitro. The primary differentiation events leading to the production of specific globins, especially for hemoglobin F production in man, are now experimentally accessible. There is good reason to hope that these advances will soon permit achievement of the long desired therapeutic goal of enhancing hemoglobin F synthesis in patients with severe beta-chain hemoglobinopathies. Our aim has been to review the scientific information that might provide the rationable for amelioration of the clinical phenotypes in patients inheriting abnormal globin genes.
N Engl J Med 1977 Dec 29
PMID:Regulation of hemoglobin synthesis during the development of the red cell (third of three parts). 33 41

Sickle cell disease presents an unusual challenge to the reconstructive surgeon. The interaction between the underlying hemoglobinopathy and the circulatory mechanics in pedicled flaps leads to a high incidence of flap necrosis in patients with this disease. We present 3 patients with sickle cell disease in whom the use of axial flaps allowed the repair of difficult reconstructive problems in one stage, without preoperative exchange transfusions. The rationale for this approach is discussed.
Plast Reconstr Surg 1977 Dec
PMID:Successful use of muscle flaps or myocutaneous flaps in patients with sickle cell disease. 33 34

A search of the records at the New York City Department of Health and the charts of patients at Columbia Presbyterian Hospital identified 37 cases of bone infection and nine cases of joint infection due to Salmonella between 1964 and 1978. Factors that apparently contributed to the development of either osteomyelitis or septic arthritis in 23 of the patients included hemoglobinopathy, previous trauma or surgery, connective tissue disorder, and lymphoma. Salmonella typhimurium and Salmonella enteritidis were the most common serotypes involved with bone infections, whereas members of the C1 serogroup were the most common cause of septic joint infections. Isolates of C1 serogroup Salmonella were represented in both bone and joint infections with frequencies (24% and 67%, respectively) disproportionate to the numbers of Salmonella isolated from other sources during this period. Therapy for joint infections was usually successful, with minimal residual damage. Therapy for acute osteomyelitis was unaccountably inadequate, with many patients (47%) developing chronic infections. Use of inappropriate therapy or an insufficient period of therapy were the most important factors contributing to poor outcome.
J Infect Dis 1978 Dec
PMID:Bone and joint infections due to Salmonella. 36 64

Prophylactic transfusions of normal donor red cells were administered during 37 pregnancies to women with sickle cell anemia, sickle cell-hemoglobin C disease, or sickle cell-beta thalassemia disease. Once the diagnosis was confirmed, the transfusions were administered intermittently throughout the rest of the pregnancy in such amounts and at such frequencies that no more than 60% of the circulating red cells contained hemoglobin S and the hematocrit was above 25. The maternal mortality rate was zero and maternal morbidity as the consequence of the sickle cell hemoglobinopathy was minimal. The perinatal mortality rate was appreciably reduced when compared to that previously observed without prophylactic transfusions but perinatal morbidity was still excessive. Evidence that the intrauterine environment was compromised, in spite of the transfusions consisted of an increased frequency of growth-retarded fetuses, of meconium staining of amnionic fluid, and of ominous decelerations of fetal heart rate. Morbidity from the transfusions was troublesome. Nonetheless, it is concluded tentatively that both the mother with a sickle cell hemoglobinopathy and her fetus are likely to benefit from prophylactic transfusions of normal donor red cells administered during one pregnancy according to the protocol employed in this study.
Am J Obstet Gynecol 1979 Dec 01
PMID:Prophylactic transfusions of normal red blood cells during pregnancies complicated by sickle cell hemoglobinopathies. 50 38

We cultured marrow and peripheral blood erythropoietic precrusors in methylcellulose clonal assay and measured the synthetic rates of HbA, A2, F, and S in patients with and without sickle cell anemia. Hb was labeled with 14C-amino acid in culture, separated by slab gel isoelectric focusing techniques, and quantitated by autoradiographic methods. Comparison of marrow late (CFU-E) and early (BFU-E) precursors from patients without hemoglobinopathies showed that preferential synthesis of HbF is limited to early precursors. Simultaneous examinations of Hb synthesis by blood and marrow early erythropoietic precursors confirmed the similarity of the biosynthetic capabilities of the precursors from the two sources. Increasing concentrations of erythropoietin (Ep) in culture corresponded with increases in the percentages of HbF synthesized by blood BFU-E of normal individuals. HbF biosynthesis by blood BFU-E from sickle cell anemia patients was significantly higher than that synthesized by nonanemic individuals and showed significant individual variations. HbF synthesis in patients with sickle cell anemia was partially dependent on Ep concentrations in culture. Cell culture of circulating erythropoietic precursors in man appears to provide a unique tool for studying the control mechanisms of Hb synthesis in man.
Blood 1978 Dec
PMID:Augmentation of fetal hemoglobin (HbF) synthesis in culture by human erythropoietic precursors in the marrow and peripheral blood: studies in sickle cell anemia and nonhemoglobinopathic adults. 71 66

The cases of three children with sickle-cell hemoglobinopathy and acute poststreptococcal glomerulonephritis are described and discussed. Light and electron microscopic findings in three cases, and immunofluorescence microscopic findings in two are described. Since proliferative glomerulonephritis of either poststreptococcal or non-poststreptococcal etiology may be seen in patients who have sickle-cell disease, immunofluorescence and/or electron microscopic examination is essential for accurate diagnosis.
Am J Clin Pathol 1976 Dec
PMID:Sickle-cell disease and poststreptococcal acute glomerulonephritis. 79 78

Circulating erythropoietic precursors in normal men and patients with hemoglobinopathies were characterized in culture. Blood mononuclear cells harvested with a modification of the Ficoll-Isopaque technique were cultured in methylcellulose for 14 days. The majority of erythropoietic colonies consisted of several subcolonies assuming the morphology of erythropoietic "bursts" described in murine marrow cultures. Time course studied of colony formation from marrow and blood nucleated cells confirmed that the circulating erythropoietic precursors represented only early stages of development. Peak sedimentation velocity of the circulating precursors analyzed using a Staput apparatus averaged 5.31 mm/hr and corresponded with that of the early erythropoietic precursors in human marrow. One ml of blood yielded an average of 153 colonies in normal men and 785 colonies in patients with hemoglobinopathies. No correlation was observed between colony formation and reticulocyte indices of individual patients. Examination of the proliferative state of the erythropoietic precursors using high specific activity tritium-labeled thymidine revealed that almost none of the cells in normal men or patients with hemoglobinopathies were in the DNA synthetic phase.
Blood 1977 Dec
PMID:Circulating erythropoietic precursors assessed in culture: characterization in normal men and patients with hemoglobinopathies. 92 59

We attempted prenatal diagnosis of hemoglobinopathies in 15 cases--11 for beta-thalassemia and four for sickle-cell disease. Fetoscopy was used in seven cases, and placental aspiration in eight. One premature labor, with fetal loss, followed placental aspiration. Globin synthesis was assessed by incubation of samples with 3H-leucine and chain separation on carboxymethylcellulose columns. Homozygous disease was predicted in two pregnancies, which were interrupted, and the diagnosis confirmed. In one case homozygosity was suspected. A repeat test was advised but not accepted. The fetus had thalassemia trait. One pregnancy was interrupted despite our prediction of thalassemia trait. Eight pregnancies went to term. Seven predictions that the infants would not have homozygous disease were confirmed. One prediction of sickle trait proved to be sickle-cell disease. Although prenatal diagnosis of hemoglobinopathies is feasible, the present frequency of fetal loss and diagnostic error indicates need for improvement.
N Engl J Med 1976 Dec 23
PMID:Prenatal diagnosis of hemoglobinopathies. A review of 15 cases. 99 41


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