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PubMed1999

Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening.

BACKGROUND: Central Middlesex Hospital, in northwest London, has screened neonates for hemoglobinopathies, using the established manual technique of isoelectric focusing (IEF) since 1989. Recently, this laboratory has faced a large increase in the number of samples tested per year. This study compared the detection of hemoglobin abnormalities between the existing manual IEF method and that of automated cation-exchange HPLC to determine the reliability of HPLC and whether an automated system would save time in the laboratory. METHODS: Over a 15-month period, 25 750 blood samples, collected by heel prick onto filter paper, were tested using HPLC, and the results were compared with those obtained with IEF. RESULTS: HPLC and IEF each identified 568 patients with FAS, 151 with FAC, 49 with FAD-Punjab, 23 with FS, 3 with FC, 6 with FSC, 5 with FE, and 1 with FD. IEF detected 62 patients with FAE, whereas HPLC detected 63. This additional FAE was observed on repeat IEF. One additional heterozygote detected by HPLC was initially not observed by IEF, but was detected on repeat IEF. HPLC detected all but six cases of Hb Barts observed by IEF. One double heterozygote and four heterozygotes were detected by IEF, but not by HPLC. The detection of hemoglobin variants expressed at low concentrations was comparable for the two methods, and carryover was not observed in routine analysis on HPLC. CONCLUSIONS: HPLC is a sensitive, efficient, and time-saving alternative to IEF for the neonatal screening of common hemoglobinopathies.

Chromatography, High Pressure Liquid↗
PubMed1999

The type 2 family: a setting for development and treatment of adolescent type 2 diabetes mellitus.

OBJECTIVE: To identify physical, behavioral, and environmental features of adolescents (aged 11-17 years) with type 2 diabetes mellitus and their families to define the involvement of known risk factors and to define a profile of at-risk individuals. DESIGN AND METHODS: A total of 42 subjects from 11 families with an adolescent in whom type 2 diabetes was previously diagnosed participated. All subjects underwent anthropometric measurement and completed food frequency and eating disorder questionnaires, and were classified according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. In addition, laboratory tests to determine levels of hemoglobin A1c, fasting glucose, C peptide, insulin, and proinsulin were performed. RESULTS: Type 2 diabetes had been diagnosed in 5 of 11 mothers and 4 of 11 fathers before the study. Type 2 diabetes was diagnosed in 3 of the remaining 7 fathers during the study. In 3 families, both parents were affected with type 2 diabetes. As a group, participants were obese, with a body mass index higher than the 95th percentile for probands and fathers, and higher than the 85th percentile for mothers and siblings. The sum of skin fold measurements was above the 95th percentile for the probands, their siblings, and the parents. All groups had high fat intake and low fiber intake. None of the subjects participated in a structured or routine exercise program, and most reported no regular physical activity. Three of the probands met the criteria for binge-eating disorder, and 6 additional patients had notable characteristics of the disorder. Mothers affected with type 2 diabetes had markedly abnormal hemoglobin A1c levels, indicating poor control. There were no group differences in fasting concentrations of insulin, proinsulin, or C peptide. However, a third of the mothers with type 2 diabetes, and all but 1 of the siblings, had evidence of insulin resistance. CONCLUSIONS: Adolescents in whom type 2 diabetes has been diagnosed, as well as their first-degree family members, are obese. In addition, the incidence of diagnosed and undiagnosed type 2 diabetes or of insulin resistance in the families of adolescents with type 2 diabetes is striking. Probands and other family members have lifestyles characterized by high fat intake, minimal physical activity, and a high incidence of binge eating. These findings indicate that the families of adolescents with type 2 diabetes share many anthropometric and lifestyle risk factors. The design of treatment programs for adolescents with type 2 diabetes will need to address the lifestyle and health habits of the entire family.

Adolescent↗
PubMed1990

Hepatic drug metabolism is increased in poorly controlled insulin-dependent diabetes mellitus.

In addition to increased glycosylation of hemoglobin, abnormalities of other heme proteins such as cytochrome P-450 might also occur in patients with insulin-dependent diabetes mellitus. Antipyrine is a useful marker drug for cytochrome P-450 dependent hepatic drug metabolism. Antipyrine kinetics and urinary excretion of antipyrine metabolites were measured in 14 patients with insulin-dependent diabetes mellitus in poor metabolic control. Improvement in diabetic control in 9 patients, as measured by more normal HbA1 values, led to normalization of plasma antipyrine half-time (t1/2) and metabolism: the mean antipyrine t1/2 slowed from 4.7 +/- 0.2 (SEM) initially to 7.8 +/- 0.3 h in these 9 patients and was thus nearly identical to that of normal subjects 8.6 +/- 1.0. Antipyrine plasma clearance improved in the 9 diabetic patients whose diabetic control improved. The apparent volume of distribution was normal on both occasions in the diabetic patients. These findings provide a new argument for tight metabolic control in patients with insulin-dependent diabetes mellitus.

Adolescent↗
PubMed1999

[Epidemiology of stroke in Guadeloupe and role of sickle cell trait].

Sickle cell disease (homozygotes SS) is known as a risk factor for both ischemic and hemorrhagic stroke, but heterozygotes AS seem to be spared. We carried out a retrospective study to assess the main risk factors and the influence of hemoglobin abnormalities on stroke in Guadeloupe. The percentages of AS, AC, and AA on 295 patients admitted for stroke were compared to the prevalence obtained on 72,000 newborn babies. Ischemic, hemorrhagic stroke and stroke complications represented respectively 83 p. 100, 10 p. 100 and 7 p. 100. Seventy one per 100 of patients had hypertension and 19 p. 100 had an association of diabetes and hypertension. The percentage of heterozygotes AS was significantly lower in the group with ischemic stroke (4 p. 100) in comparison with controls (8.5 p. 100), while AS were more represented in hemorrhagic stroke (16 p. 100). The risk of hemorrhagic stroke was 10 fold higher in AS patients admitted for stroke and the risk of ischemic stroke was reduced by 15 fold. These data suggest that the sickle cell trait could be associated to red cell and/or endothelial specificities which could prevent for ischemic stroke. The influence of AS heterozygote on the occurrence of stroke needs to be examined in a longitudinal, prospective study.

Adult↗
PubMed1985

Neonatal screening and genetic counseling for sickle cell trait.

In a newborn screening program for abnormal hemoglobins, 91 infants were found to have hemoglobin AS or AC. Their parents were informed and offered genetic counseling, but only 35% accepted. We tested parents' knowledge of sickle disorders before and after the session. The tests were repeated when their babies were 4 to 8 months old; parents of babies with normal hemoglobin and those with sickle trait who had not been counseled were also tested at this time. Parents who received counseling showed an increase in knowledge and retained it until the second interview although 27% did not recall the original session. Uncounseled parents of "trait families" also had knowledge of the condition; in general, trait families knew more about the condition than normals' families. Newborn hemoglobin screening programs prove helpful for certain families but not necessarily for all who may be eligible.

Anemia, Sickle Cell↗
PubMed1975

Hemoglobinopathy with prolonged bactermia. A report of two cases.

Prolonged Escherichia coli bacteremia occurred as a complication of pyelonephritis in two patients with abnormal hemoglobins (SC and SS), despite "appropriate" antibiotic therapy. Careful investigation in each case failed to account for the persistent sepsis. Pyogenic arthritis ultimately developed in both patients.

Adult↗
PubMed1998

Molecular and population genetic analyses of beta-thalassemia in Turkey.

In this report we describe the molecular analysis of 795 chromosomes derived from unrelated Turkish beta-thalassemia and sickle cell anemia carriers identified in hematology clinics in Istanbul, Ankara, Izmir, Adana, and Antalya. The determination of the molecular pathology of 754 beta-thalassemia and 42 abnormal hemoglobin genes and analysis of the frequency distribution in six distinct regions of Turkey was accomplished. The experimental strategy, based on PCR amplification of the beta-globin gene, included dot-blot hybridization with 18 probes specific for the Mediterranean populations, denaturing gradient gel electrophoresis, and genomic sequencing. When the regional results are compared with the overall frequency of mutations in the country, it is observed that the frequencies in the western and southern parts of Turkey are in good accordance with the overall distribution, whereas the northern and eastern parts have a more region/population-specific profile with some rare mutations having a significantly high occurrence in these regions. Further evaluation of the data with respect to region- or population-dependent differences will contribute to a better understanding of the mechanisms leading to the marked genetic heterogeneity in Turkey, but could also be extremely valuable in facilitating rapid identification of mutations in families at risk for different hemoglobinopathies.

Anemia, Sickle Cell↗
PubMed1998

alpha-Thalassaemia due to a single codon deletion in the alpha1-globin gene. Computational structural analysis of the new alpha-chain variant. Mutations in brief no. 132. Online.

A new unstable alpha-globin chain associated with alpha-thalassemia phenotype has been found in a Spanish patient. Molecular analysis of the alpha-globin gene complex using PCR and non-radioactive single-strand conformation analysis, allowed to identify a new mutation in the second exon of the alpha-globin gene. Direct sequencing of the abnormal fragment revealed a 3 bp deletion, which led to the loss of a single codon corresponding to a Lys (K) residue at position 60 or 61 DK60 or DK61. Theoretical structural analysis, performed by computational methods, indicated that the loss of an amino acid residue at this position disturbed the contact region between the B and E-helices, affecting the overall stability of the molecule. Therefore, the DK60 and DK61 results in a structurally abnormal alpha-globin chain, not previously described, named Hb Clinic, which leads to the alpha-thalassemia phenotype in the heterozygote patient. No abnormal hemoglobin was detected by standard electrophoretic procedures, suggesting that this alpha-globin chain variant is so unstable that it may be catabolized immediately after its synthesis. This mutation was confirmed by PCR using an allele specific primer.

Codon↗
PubMed1994

Sickle cell anemia, sickle cell beta-thalassemia, and thalassemia major in Albania: characterization of mutations.

We have analyzed the hemoglobin abnormalities in nearly 50 Albanian patients with a significant hemoglobinopathy and included 37 relatives in this study. Sickle cell anemia (SS) is a common disorder; all 15 sickle cell anemia patients had the complications expected for this disease. The beta S haplotype was type 19 (Benin); alpha-thalassemia-2 was rare. Three beta-thalassemia alleles (IVS-I-110, G-->A; codon 39, C-->T; IVS-I-6, T-->C) were present in nearly 85% of the beta-thalassemia alleles; their frequencies were intermediate between those observed in the populations of neighboring countries. A few rare mutations were also found, which might have originated in India, Turkey, Macedonia, and Greece. Nearly all patients with Hb S-beta-thalassemia had the IVS-I-110 (G-->A) mutation. The frequencies of 11 beta-thalassemia mutations in 17 mostly Mediterranean countries have been reviewed.

Adolescent↗
PubMed1982

Congenital microangiopathic hemolytic anemia: report of a Japanese girl.

A 4-year-old Japanese girl had hemolytic anemia, thrombocytopenia, distorted and fragmented red cells in the peripheral blood, and megakaryocytosis in the bone marrow from the newborn period. These features were temporarily relieved and prevented by the infusion of fresh frozen plasma from healthy donors. This would indicate a deficiency in the patient's plasma of factor(s) that inhibit platelet aggregation in the blood vessels. An attempt to demonstrate possible in vitro deficiency of the platelet aggregation-prohibiting factor in the patient's plasma was unsuccessful. Laboratory examinations ruled out red cell fragility, abnormalities of red cell enzymes, abnormal hemoglobins, or immune reaction as underlying mechanisms. Our patient, together with three other patients in the literature with similar clinical features, may constitute a clinical entity that could be called "congenital microangiopathic hemolytic anemia".

Anemia, Hemolytic, Congenital↗
PubMed1985

Antibiotic therapy for treatment in relapse of intestinal Crohn's disease. A prospective randomized study.

We have undertaken a prospective randomized trial of one month's antimicrobial therapy for patients with symptomatic relapse of Crohn's disease. Criteria for entry included two major symptoms: fever, abdominal pain, diarrhea, weight loss, abdominal mass or complications (excluding perianal disease); and two hematologic abnormalities: hemoglobin, ESR, albumin, C reactive protein, iron, or total iron binding capacity. Patients were monitored for the aforementioned clinical and hematologic (hemoglobin, albumin, CRP) parameters over six weeks and for changes in fecal flora. Randomization was to four groups: metronidazole alone (M), cotrimoxazole alone (C), metronidazole and cotrimoxazole (C plus M), or double placebo (P). Seventy-two patients entered the study (18 = M, 16 = C, 21 = C plus M, 17 = P). After two weeks, improvement was reported as follows: M = 67 percent, C = 17 percent, C plus M = 71 percent, P = 35 percent. In the metronidazole group, two patients required surgery and one had troublesome side effects. In the cotrimoxazole group, two had side effects. In the combined group (C plus M), four had troublesome side effects and two of the placebo group (P) required operation. By four weeks, there was no difference in response among the groups: (M = 44 percent, C = 62 percent, C plus M = 57 percent, P = 41 percent). Antimicrobials had no effect on fecal flora or hematologic parameters. These results indicate that antimicrobials have little therapeutic potential for relapse of intestinal Crohn's disease.

Adult↗
PubMed2002

Epidemiological profile of hemoglobinopathies in the Mauritanian population.

We performed a study of hemoglobin in 700 blood donors attending the Centre Hospitalier National de Nouakchott in Mauritania. We detected 116 cases of anomalies corresponding to a global prevalence of 16.6%. The analysis of the samples studied showed that 72.3 % of the donors were Blacks and 28.7 % were White Maurs ( Maures blancs). In the Black population the prevalence of hemoglobinopathies is 21.44% whereas among the White Maurs it is 4.47%. In this study, the six ethnic groups that constitute the Mauritanian population were also represented in the sample, but with different numbers. We noted some differences in the repartition of anomalies among these groups. The hemoglobin anomalies that were found are sickle cell anemia, beta-thalassemia, and delta-variant, all in heterozygous form. Geographical repartition revealed that the hemoglobin abnormalities are mostly encountered in the Southeast and the Southwestern parts of the country, which could be considered areas of high risk for hemoglobinopathies.

Blood Donors↗
PubMed2006

Uneventful epidural labor analgesia and vaginal delivery in a parturient with Arnold-Chiari malformation type I and sickle cell disease.

Arnold-Chiari malformation is a disorder of the hindbrain which can lead to altered craniospinal pressures and abnormal flow of cerebrospinal fluid. The possibility of increased intracranial pressure imparts significant risk during labor and delivery, and has led to concern over the use of neuraxial anesthesia. Sickle cell disease is a disorder of abnormal hemoglobin that is prone to sickling under stressful conditions. The physiologic and metabolic changes associated with pregnancy and labor can precipitate sickling, which increases risks for both the mother and the fetus. Vaso-occlusive pain crisis in a parturient with sickle cell disease has been shown to improve with the initiation of neuraxial anesthesia. We present the first reported case of a parturient with both Arnold-Chiari malformation type I and sickle cell disease who presented to labor and delivery with acute pain crisis and who subsequently received epidural labor analgesia and underwent successful vaginal delivery. We include a discussion of the risks associated with pregnancy, labor, neuraxial anesthesia, and delivery in a patient with Arnold-Chiari malformation type I and sickle cell disease.

Adult↗
PubMed1991

Erythromelalgia: review of clinical characteristics and pathophysiology.

Erythromelalgia is characterized by burning discomfort, warmth, and dermal erythema of the feet and/or the hands. Lowering the involved part and exposure to heat worsen symptoms, whereas elevation or cooling of the extremity relieves the discomfort. Several different subtypes of erythromelalgia have been documented and include an adult-onset form secondary to myeloproliferative syndrome-related thrombocytosis and an early-onset form that appears in childhood or adolescence and is idiopathic. A disturbed platelet function affecting the microvasculature has been implicated in thrombocythemia-related erythromelalgia. Importantly, manifestations of erythromelalgia often precede the onset of the myeloproliferative disease by several years. Therefore, the blood cell count should be monitored periodically in all adult patients with erythromelalgia. An abnormal hemoglobin, white blood cell, or platelet count or the presence of immature cells in the differential should prompt the physician to initiate a diagnostic evaluation for an underlying hematologic disorder. The symptoms of adults with erythromelalgia are markedly relieved after treatment with a single daily dose of acetylsalicylic acid. In contrast, childhood erythromelalgia appears without an underlying disorder, may be familial, and is resistant to treatment with aspirin.

Adolescent↗
PubMed1976

Sickle cell trait and transient monocular blindness.

Five episodes of transient monocular blindness during a six-month period occurred in a 42-year-old black man who had sickle cell trait. Other than the hemoglobin abnormality no cause for the transient monocular blindness was determined.

Adult↗
PubMed1988

The hemoglobinopathies and pregnancy in Lagos.

Thirty-four patients with abnormal hemoglobin were studied through 42 pregnancies under one obstetrician. There were 30 patients with sickle cell anemia (HbSS), two with sickle cell hemoglobin C disease (HbSC) and two with homozygous hemoglobin C disease (HbCC). There were 39 live births (including one pair of twins), and four perinatal deaths. The patients with HbSC and HbCC had five uncomplicated pregnancies and deliveries. Of the 36 pregnancies in patients with HbSS one aborted at 12 weeks. Intra-uterine growth retardation (14.3%) and pregnancy-induced hypertension (14.3%) were the most serious pregnancy complications. No patient had more than one crisis. Only one out of the 10 patients transfused needed more than two units of blood throughout pregnancy. The mean gestation at delivery was 37.5 +/- 3.2 (S.D.) weeks. The mean birth weight was 2.7 +/- 0.6 (S.D.) kg. The perinatal mortality was 114.3 per thousand live births and there was one maternal death.

Adult↗