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Results for “Hemoglobinopathies”

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At least 19 recordsLinked to original sources

PubMed1977

Secondary gout in hemoglobinopathies: report of two cases and review of the literature.

Although patients with hemolytic hemoglobinopathies characteristically are over-producers of urate, and hyperuricemia is frequently recognized, clinical gout has rarely been reported in such patients. Our evaluation of 2 premenopausal women with gout led to the diagnosis of previously unrecognized hemoglobinopathies (SC disease and CC disease). Investigation of these 2 patients and review of the reported cases of gout in patients with hemoglobin S or C disorders suggest that relatively minor abnormalities of renal function in these patients may lead to early development of significant hyperuricemia. With increasing lifespan of patients with hemolytic hemoglobinopathies and the likelihood of increased occurrence of renal function abnormalities, it is anticipated that gout will more frequently be responsible for joint symptoms in such patients.

Adolescent↗

PubMed1977

Circulating erythropoietic precursors assessed in culture: characterization in normal men and patients with hemoglobinopathies.

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.

Cell Cycle↗

PubMed1977

A plasma inhibitor of ristocetin-induced platelet aggregation in patients with sickle hemoglobinopathies.

Because of the high prevalence of thrombotic complications in patients with sickle cell anemia (SCA), we investigated platelet function in patients with sickle hemoglobinopathies. Platelet aggregation induced by epinephrine, ADP, and collagen, except for absent secondary wave in 3 of 10 patients with SCA, was qualitatively normal. However, ristocetin-induced platelet aggregation (RIPA) with a final concentration 1.12 mg/ml was markedly abnormal-absent or virtually absent in 9 of 10 patients with SCA, 3 of 3 patients with hemoglobin S-C disease, and 2 of 3 patients with sickle trait. All 8 controls used in these experiments repeatedly demonstrated normal RIPA. Addition of normal plasma failed to correct abnormal RIPA in sickle hemoglobinopathy patients. All patients demonstrated normal RIPA with a ristocetin dose of 2.24 mg/ml and aggregated with bovine fibrinogen. Recombinant mixing experiments demonstrated that washed SCA platelets support RIPA (1.12 mg/ml) when resuspended in normal plasma or high dilutions of SCA plasma, but not in undiluted SCA plasma. Washed normal platelets do not support RIPA (1.12 mg/ml) when resuspended in SCA plasma. These findings suggest the presence of a plasma inhibitor of RIPA in patients with sickle hemoglobinopathies.

Anemia, Sickle Cell↗

PubMedDate not supplied

Choroidal occlusive disease in sickle cell hemoglobinopathies.

Two distinct episodes of posterior ciliary artery occlusion were studied in a 32-year-old man with hemoglobin SS disease and multiple episodes of amaurosis fugax. Although posterior ciliary artery occlusions have been observed following photocoagulation of sickle cell retinopathy, their spontaneous evolution in patients with sickling hemoglobinopathies has received little attention. The manifestations of posterior ciliar artery occlusion seen in this case and in other clinical and experimental situations are reviewed. Histopathologic examination of three additional eyes of patients with sickle hemoglobinopathies revealed changes which may have been the result of previous small posterior ciliary artery occlusions or small vessel occlusive disease related to the sickling hemoglobinopathies; these cases are also reported.

Adult↗

PubMed1979

Urologic manifestations of sickle hemoglobinopathies.

We analyzed the renal radiographic changes in the sickle hemoglobinopathies in 92 patients, in 70 of whom the specific hemoglobin type was documented by electrophoresis. The following conclusions have been drawn: (1) Approximately 50% of patients with SS hemoglobin have renal enlargement (both on roentgenograms and at autopsy), while only a small proportion of patients with the other hemoglobinopathies show renal enlargement; (2) slightly more than one half of patients with each type of hemoglobinopathy have calyceal changes; and (3) these calyceal changes do not fall into a specific pattern with respect to hemoglobin type.

Adolescent↗

PubMed1979

"Step-off" vertebral body: Gaucher's disease versus sickle cell hemoglobinopathy.

Two patients with Gaucher's disease and radiographic findings in the spine similar to sickle cell hemoglobinopathy are reported, making a total of four known patients with Gaucher's disease who have these steplike vertebral endplate deformities. Serial films of a patient having Gaucher's disease compared with patients having sickle cell hemoglobinopathy suggest that different events lead to formation of the vertebral deformities. In Gaucher's disease, there is an initial collapse of the entire vertebral body with subsequent growth recovery peripherally. In sickle cell hemoglobinopathy, the endplate deformity is nontraumatic and is caused by an underlying growth arrest.

Adolescent↗

PubMed1978

[Systematic screening of hemoglobinopathies in blood donors in Guadeloupe (French West Indies)].

We report the results of a systematic survey carried on 8.961 healthy Guadeloupean blood donors, where we looked for hemoglobinopathies. The results are expressed in regard of the race and site of living (urban or rural) of the subjects. Of these 8.961 subjects, aged 18 to 60, 7.75% were sickle cell trait carriers, 2.36% were heterozygous for Hb C and 0,2% had a significant elevation of Hb F. Were also report some less frequent phenotypes : three Hb AD, five Hb SC, one Hb CC, two Hb SF, one Hb CF and one case of isolated Hb, A2 elevation. Two rare hemoglobinopathies are reported: a case of Hb Korle Bu associated with Hb S an a case of Hb N-Baltimore. Our datas regarding race and sex of Hb S and Hb C carriers are evaluated. These results are compared to previous studies carried on healthy blood donors in Guadeloups. Problems related to the detection of hemoglobin abnormalities in a blood transfusion center are reviewed.

Blood Donors↗

PubMed1979

Application of an automatic oxygenation technique to analysis of oxygen equilibrium curves for hemoglobinopathic red cells and functional screening of clinically important hemoglobinopathies.

The automatic oxygenation technique of Imai et al (Biochimica Biophysica Acta, 200:189--196, 1970) was slightly modified and applied to the study of oxygen equilibrium curves of dilute, red-cell suspensions from normal subjects and individuals with hemoglobinopathies, enzymopathies, and other hematologic disorders. The p50 values of non-smoking, normal adults were 25.9 +/- 0.6 mm Hg at pH 7.4 and 37 degrees C, and corresponded to the values for whole blood reported in the literature. The oxygen equilibrium curves of suspensions from subjects with enzymopathies revealed shifts in position which are thought to be due to alterations in the concentration of 2,3-DPG of the red cells. Abnormalities in shape of the equilibrium curves were observed only for the hemoglobinopathic red cells, and could best be illustrated by the abnormally low Hill's exponent (n*). Analyses of the n* values of 34 patients with various red-cell disorders of unknown causes led to the identification of ten cases showing low values. In five of the ten patients, the presence of an abnormal hemoglobin was confirmed using column chromatography on Amberlite CG--50. These results point to the usefulness of the Hill Plot analysis of red-cell oxygen dissociation curves in functional screening for clinically important hemoglobinopathies.

Erythrocytes↗

PubMed1975

Laboratory screening of hemoglobinopathies.

A procedure for the laboratory screening of hemoglobinopathies is described. The procedure employs hemoglobin electrophoresis followed by solubility testing to confirm presence of sickling hemoglobins. All initial screening tests are carried out on whole blood specimens collected on filter paper. The use of filter paper facilitates collection and results in considerable saving in time and mailing cost. The results of the first year screening confirm the findings of earlier studies that blood specimens collected on filter paper are satisfactory for electrophoresis and solubility tests. All tests are relatively easy to perform using readily available commercial reagents. The procedure is particularly suitable for public health laboratories in carrying out hemoglobinopathy screening programs.

Electrophoresis, Agar Gel↗

PubMedDate not supplied

Orthopedic aspects of sickle cell anemia and allied hemoglobinopathies.

The study of 23 cases of hemoglobinopathies in Nigeria using electrophoresis, showed that 16 cases were HB-SS, 5 cases HB-SC, and 2 cases HB-S Th. There were infarcts of long bones, which were usually multiple in the diaphyses in 17 cases, septic arthritis of big joints in 4 patients and aseptic necrosis of the hip in one, and in the hip and knee in one. Infection was proved by culture in only the 4 joints and 7 of the affected long bones, 8 of the causative organisms were Salmonella and 3 were Staphylococci. Only 2 of the infected cases needed sequestrectomy and the other 9 responded to simpler methods like aspiration and incision of abscess U.L.A. without resulting in a sinus formation. The aseptic necrosis in the hip may simulate Perthe's disease and dysbaric osteonecrosis, the massive periosteal reaction may simulate Caffey's disease and hypervitaminosis A, and give rise to difficulties in diagnosis when hemoglobinopathies are not suspected.

Adolescent↗

PubMed1975

Hemoglobinopathies in the Hamilton region. I. A 4-year survey.

A regional laboratory for the diagnosis and investigation of hemoglobinopathies was established by the Hamilton District Program in Laboratory Medicine in October 1970. Specimens from patients suspected of having a hemoglobinopathy were referred to the regional laboratory from all the hospitals participating in the program. Between October 1970 and October 1974, 3547 specimens were screened for an abnormal hemoglobin and thalassemia; 758 cases of thalassemia, 165 cases of abnormal hemoglobin and 14 mixed cases were diagnosed. Before 1970, 110 cases of thalassemia and 12 cases of abnormal hemoglobin were on record in the Hamilton region. Regionalization of laboratory services provides a more effective means of screening for abnormalities in hemoglobin structure and synthesis and facilitates the opportunity for improving diagnostic procedures.

Asia, Southeastern↗

PubMed1977

Pregnancy in patients with hemoglobinopathies and thalassemias.

The availability of sophisticated laboratory procedures has made the diagnosis of many hemoglobinopathies and thalassemias simple. Structural alteration of the polypeptide chains and defects in the rate of synthesis of any of the polypeptide chains are the most common abnormalities: hemoglobins S, C and D are examples of the former, and the thalassemias are examples of the latter. The pathophysiology, clinical manifestations and individual variation of each abnormality are significantly different. Early diagnosis and the knowledge of the pathophysiology together with careful and frequent follow-up are necessary for providing better medical care. Pregnancy in a patient with a diagnosis of hemoglobinopathy or thalassemia certainly speaks for risks to both the mother and fetus. Management of each case has to be planned individually to provide optimal medical and supportive care. We have found a special combined hematology-obstetrics clinic to be helpful in the follow-up of these high-risk patients.

Anemia, Sickle Cell↗

PubMed1979

RBC surface pits in the sickle hemoglobinopathies.

Functional asplenia develops in children with sickle cell anemia. This asplenia is related to the increased incidence of bacterial sepsis that has been documented in these patients. With the use of direct-interference contrast microscopy to quantitate splenic function, we studied children with the sickle hemoglobinopathies. A gradual increase in splenic dysfunction with increasing age was documented in children with homozygous sickle cell disease. Children with the sickle variants also seem to manifest degrees of splenic dysfunction. Direct-interference contrast microscopy is a simple quantitative technique for the evaluation of splenic function in children with the sickle hemoglobinopathies.

Adolescent↗

PubMed1979

Prophylactic transfusions of normal red blood cells during pregnancies complicated by sickle cell hemoglobinopathies.

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.

Anemia, Sickle Cell↗

PubMed1976

Prenatal diagnosis of hemoglobinopathies. A review of 15 cases.

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.

Anemia, Sickle Cell↗

PubMed1979

Acute splenic sequestration crisis in an adolescent with S-C hemoglobinopathy.

Acute splenic sequestration crisis occurs rarely as a complication of sickle hemoglobinopathy. It is a medical emergency requiring immediate restoration of intravascular volume with transfusions of fresh packed RBCs. If the blood of the patient under discussion had not contained strong irregular antibodies, the delay in blood transfusion and the subsequent fatal outcome might have been avoided. Whether young children with sickle hemoglobinopathies should be checked periodically for the presence of irregular antibodies is an unanswered question. Monitoring might be important in view of the small but definite risk during childhood of the development of acute splenic sequestration crisis.

Acute Disease↗

PubMed1979

Accuracy of cord blood screening for sickle hemoglobinopathies. Three- to five-year follow-up.

The strategic advantages of neonatal diagnosis of sickle hemoglobinopathies depend on an accurate cord blood screening procedure. One hundred thirty-eight black children in whom a range of normal and abnormal hemoglobin genotypes was identified by agar gel and cellulose acetate hemoglobin electrophoresis at birth were retested by cellulose acetate three to five years later. The original cord blood diagnoses were verified in all 138, including all 26 with major sickle syndromes (SS, S-beta thalassemia, and SC). Cord blood hemoglobin electrophoresis using these techniques permits accurate neonatal diagnosis of major and minor sickle hemoglobinopathies.

Anemia, Sickle Cell↗

PubMed1976

The use of prophylactic partial exchange tranfusion in pregnancies associated with sickle cell hemoglobinopathies.

Sickle cell anemia is associated with an alarming attrition rate during pregnancy. The maternal morbidity rate, perinatal wastage rate, and the incidence of severe morbidity in both mother and child are elevated above acceptable limits. In most cases, these statistics have been compiled using conservative therapeutic modalities. In contrast, this report utilizes prophylactic partial exchange transfusion therapy in patients with severe sickle cell hemoglobinopathies. The protocol involves the introduction of 750-1000 cc of buffy coat, poor washed red cells exchanged with 1000-1500 cc whole blood during phlebotomy at 28 weeks' gestation and again prior to term. Thirty-six consecutive pregnant patients with sickle cell anemia have been managed in this fashion. The one maternal mortality occurred in a patient who did not complete the protocol. Major maternal morbidity and perinatal wastage rates were significantly decreased. Two cases of serum hepatitis occurred. It appears from these data that the use of prophylactic partial exchange transfusion in pregnant patients with severe sickle cell hemoglobinopathies can be of benefit. Further trials of this method seem justified by these results to assess completely the benefit-risk ratio of this procedure.

Anemia, Sickle Cell↗