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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The author was a biochemist who, because he had experience in plasma iron estimations, became involved in the investigation of a hypochromic anemia in India during World War II. This led to another such study in Uganda after the war. There, an investigation of the incidence of sickling led to the discovery of overall differences between Hamitic-speaking tribes and the Bantu and Nilotes. A few exceptions could later be explained on the basis of the effect of malaria on sickling incidence. A mapping of the world distribution of sickle-cell and other hemoglobins followed, as well as a search for factors which cause the severity of sickle-cell anemia to vary. A most important lowering influence on this severity seems to be that of alpha-thalassemia. It is suggested that the high incidence of alpha-thalassemia type 2 (alpha/alpha alpha) in malarial regions is not related to malaria itself but to the beta-chain abnormalities which protect against malaria and therefore are frequent in the same populations. Alpha thalassemia in turn has a selective value because it lowers the pathological effect of sickle-cell anemia, as well as the consequences of Hemoglobin E and beta-thalassemia.
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PMID:Sickle cell anemia 35 years ago: reminiscence of early African studies. 637 13

Previous studies of the Hpa I cleavage site-sickle cell hemoglobin gene linkage in various African populations suggested that the sickle gene arose independently more than once. In the present study we have performed restriction endonuclease haplotype analysis for the beta-globin-like gene cluster from four separate geographic areas in Africa, all of which possess the sickle gene. In Benin (Central West Africa) and Algeria (Arab North Africa) all chromosomes carrying the sickle gene possess an identical haplotype as defined by 11 different polymorphic restriction endonuclease sites within the 60-kilobase region of the beta-globin-like gene cluster. In the Central African Republic (Bantu-speaking Africa) and in Senegal (Atlantic West Africa) a very large proportion of the sickle gene chromosomes were associated with a haplotype specific for each country. Thus, three different haplotypes are shown to be associated with the sickle gene in Africa, and each is present at a very high frequency in geographically separate regions. Since the three haplotypes differ from each other by at least three sites residing both 5' and 3' to a putative hot spot for recombination, it is most likely that the sickle gene arose at least three times on separate preexisting chromosomal haplotypes. This may have implications for a better understanding of the variable nature of the expression of sickle cell anemia, because clinically relevant sequences (for example, gamma-globin gene regulatory sequences responsive to anemia) might be linked polymorphically to these haplotypes.
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PMID:Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. 658 11

In Africa, the beta-globin gene cluster haplotype may be associated with variation of Hb F levels in subjects with sickle cell anemia (SS). These observations have not yet been conclusively confirmed in SS out of Africa, perhaps because of small sample sizes, the predominance of haplotype heterozygotes, and diverse influences, including gender, upon Hb F levels. We studied 384 adult African-American SS patients (mean age, 31 years) and explored the relationship of gender, beta-globin gene cluster haplotype, and alpha thalassemia to hematological values and Hb F levels. Both haplotype and gender influenced Hb F concentration. In the total sample, Hb F was higher in females than in males (8.2 vs. 6.5%). In 35 males who were either homozygous for the Senegal chromosome or had the Senegal/Benin haplotype, the mean percent Hb F (8.0%) was equivalent to the Hb F level in females with Benin and Bantu haplotypes (approximately 7.5%). Both females and males homozygous for the Senegal haplotype chromosome or with the Senegal/Benin combination had a significant increase in Hb F compared to other groups. In 44 Senegal/Senegal or Senegal/Benin females the Hb F was 10.9%, or 1.0 g/dl, the highest value observed in all primary analysis groups. Preliminary analyses suggested that the presence of a Bantu chromosome blunted the gender-associated difference in Hb F, but Hb F differences between females with the Senegal/Benin haplotype (11.2%) and the Senegal/Bantu haplotype (8.8%) were not statistically significant. Hemoglobin concentrations were higher in males than in females except in subjects with at least one Senegal haplotype chromosome, where hemoglobin levels were equal. As expected, alpha thalassemia reduced the MCV, increased hemoglobin concentration, and lowered reticulocyte counts, regardless of haplotype. Hb F levels were not affected by the presence of alpha thalassemia in any group. We conclude that gender and beta-globin gene cluster haplotype interact significantly in the modulation of Hb F and anemia in adults with SS.
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PMID:Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia. 753 53

A comparative study of clinical, hematologic, and cytogenetic findings was made in 40 black and 35 white children with Fanconi anemia. The black children were Bantu-speaking Negroid stock of diverse tribal origin. The white children were predominantly Afrikaans stock of Dutch/German/French Huguenot origin. All of the patients had IFAR scores of 2 to 4+ and over 80% in each group had increased spontaneous and/or mutagen-induced chromosomal breakage (CB-positive). There were no significant clinical differences between black and white patients or between CB-pos and CB-neg patients, with the exception of white children in whom significantly more CB-pos patients had thumb and radial anomalies than the CB-neg patients. The age-at-onset of hematologic manifestations was the same for all groups, but more black than white CB-pos patients were severely anemic at the time of diagnosis. Response to androgen and steroid therapy occurred in only 33% of black children compared with 86-90% of white children; 81% of black patients died during the 18 year study period compared with 30% of white children, but the age at death was similar. More sophisticated studies are required to determine whether these differences are genetically determined or related to cultural, educational, and socio-economic differences between the two ethnic groups.
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PMID:Comparative study of Fanconi anemia in children of different ethnic origin in South Africa. 781 May 59

We asked the question, is the haplotype found with the sickle hemoglobin gene associated with different hematological characteristics in patients who were combined heterozygotes for sickle hemoglobin and hemoglobin C (Hb SC disease)? In 73 adults with Hb SC disease, a Benin haplotype chromosome was present in 56%, and Bantu (or Central African Republic; CAR), Senegal, and atypical haplotype chromosomes were found in 25%, 6%, and 12%, respectively. No significant difference were found in hematological characteristics or fetal hemoglobin levels of patients with Benin/C, CAR/C, Senegal/C, and atypical/C haplotypes. There were 71% C I, 18% C II, and 11% other beta(c) haplotypes. Fetal hemoglobin levels are lower in Hb SC disease than in sickle-cell anemia. Perhaps because haplotype has no discernible effect on fetal hemoglobin level in Hb SC disease, it does not modulate its hematological features.
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PMID:Beta-globin gene haplotype in Hb SC disease. 875 85

This paper describes the longitudinal changes in height and weight of children in school grades 1-3 on Pemba Island, Zanzibar, a poor rural population in which parasitic infections and anemia are highly prevalent. Heights and weights of children were measured at base line, and 6 and 12 mo later, and were compared with U.S. reference data. At base line, the prevalence of height-for-age Z-score < -2 rose from 14% in 7-y-old children to 83% in 13-y-old children. Prevalence of weight-for-age Z-score < -2 in children < 10 y was approximately 10% or less. Median 6-mo height increments for Pembian boys were around the 5th percentile at age 8 and around the 10th percentile from age 9 to 13 y. Height increments for girls improved from below the 25th percentile to above the median in this age range. Based on the longitudinal yearly gains observed, boys accumulate a height deficit of 11.9 cm and girls 8.5 cm, relative to the reference population. In multivariate analyses, a small part of the variability in growth increments was explained by ascariasis and anemia (for weight gain) and schistosomiasis (for height gain). A review of other growth data from rural African Bantu populations provides supporting evidence that stunting occurs in older as well as younger children. It has been controversial whether school-based health and nutrition interventions could induce catch-up growth in already stunted children. Our results suggest that appropriate interventions might actually prevent stunting in late childhood.
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PMID:Linear growth retardation in Zanzibari school children. 918 23

Clinical, hematological and molecular features of 116 unrelated sickle-cell anemia patients from Brazzaville were investigated. The mean age of the patients was 9.4 +/- 5.3 years. 232 beta(s)-chromosomes were haplotyped and almost all sickle cell anemia patients (91%) were homozygous for the Bantu haplotype. All hematological indices were similar for males and females. Mean hemoglobin (Hb) concentration was 6.6 +/- 1.4 g/dl. Fetal Hb (HbF) levels were from 1 to 28%, with a mean of 8.8 +/- 5.8%. There was a curvilinear relationship between %HbF and age suggesting that HbF level had a selective effect on the survival of patients. This effect was sex dependent. The (-alpha(3.7)) gene frequency was 0.45 and was not affected by stratification for age. Hematological characteristics of patients with (-alpha/alphaalpha, -alpha/-alpha) and without (alphaalpha/alphaalpha) the -alpha(3.7) alpha-thal-2 deletion showed trends similar to those reported in Jamaican and US sickle cell anemia patients. Hyperbilirubinemia (>38 micromol/l) was common and high lactic dehydrogenase (LDH) concentrations were recorded. Bilirubin concentrations for males and females were similar whereas those for LDH concentration were not. Hepatomegaly and splenomegaly were common. Splenomegaly was strongly associated with the -alpha(3.7) alpha-thal-2 deletion. These clinical and hematological observations indicate a more severe form of hemolytic disease in Congolese SS patients.
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PMID:Sickle-cell disease in Brazzaville, Congo: genetical, hematological, biochemical and clinical aspects. 1083 58

Twenty-five individuals were studied from four unrelated Mexican Mestizo families with Hb D-Los Angeles. We observed five compound heterozygotes: four for Hb S and Hb D, and one for Hb D and beta-thalassemia (beta(0) 39 nonsense mutation); 16 heterozygotes: four for Hb S, seven for Hb D, and five for beta-thalassemia, while the remaining four were normal. The four Hb S/Hb D patients had severe hemolytic anemia, while in the Hb D/beta-thalassemia patient, the anemia was similar to that of a beta-thalassemia heterozygote; therefore, Hb D is clinically harmful when it is associated with Hb S. The beta(S) chromosomes were associated with the Benin haplotype in two families and Bantu in one family, while the beta(D) and beta(0) 39 mutations were associated with haplotype 1 [+ - - - - + +]. The Bantu and Benin haplotypes have been found with high frequency in Hb S individuals from the East Coast and Northwestern Mexico. The beta(D) chromosomes from Italy were also shown to be associated with haplotype 1, the most frequently observed haplotype in the world; there are no haplotype studies on beta(D) chromosomes from India or China where Hb D-Los Angeles is most common. Thus, the true origin of this mutation observed in these Mestizo families remains to be elucidated.
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PMID:Hb D-Los Angeles associated with Hb S or beta-thalassemia in four Mexican Mestizo families. 1049 Jan 35

We estimated plasma GM-CSF levels in a group of 28 steady-state sickle cell anemia (SS) patients in Kuwait, using an ELISA technique. There were 24 age-matched Hb AA controls, 14 of whom were healthy while 10 were acutely ill at the time of the study. Five SS patients were also studied during 6 episodes of painful crisis. Among the SS patients, 82.1% were homozygous for the Saudi Arabia/India (SAI) haplotype with Hb F ranging from 15 to 35% and total Hb from 8.5 to 11 g/dl. Three patients (siblings) were SAI/Benin compound heterozygotes with Hb F of 9-23% and total Hb >10 g/dl. One patient each was homozygous for the Benin or the Bantu haplotype; they had Hb F <2% and total Hb of 6.6 and 7.2 g/dl, respectively. Four (14. 3%) steady-state SS patients had detectable plasma GM-CSF ranging from 75 to 1,817.6 pg/ml. These included the 2 patients with Hb F <2. 0% and 2 with the SAI/Benin compound heterozygotes with Hb F of 11 and 9%, respectively. Four (66.7%) SS patients in crisis, 6 (42.9%) healthy controls and 6 (60%) acutely ill controls had detectable plasma GM-CSF. A clearcut association of GM-CSF with Hb F level or degree of anemia in steady-state SS patients could not be established. The appearance of GM-CSF in the plasma of patients in crisis and also among control subjects raises the possibility that other factors are involved in the production of this cytokine in the subjects studied.
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PMID:GM-CSF in sickle cell anemia patients with elevated Hb F. 1069 77

Because of the psychological effects of cultural beliefs about death among Bantu peoples, women in Zaire who experience intrauterine deaths of their babies desire rapid expulsion of the fetus. From January 1980-December 1983, 60 intrauterine deaths occurred among 21,836 deliveries at the Department of Gynecology and Obstetrics of the University Clinics of Mont Amba in Kinshasa, Zaire. A retrospective study was conducted of the records of the 47 women in whom fetal death did not occur during delivery. Labor was induced by intraamniotic instillation of hypertonic saline solution in 19 cases in which labor did not spontaneously begin. Women with cardiac or renal problems, hypertension, severe anemia, or intrauterine hemorrhage were excluded. The pregnancy ages varied from 22 to 45 weeks at the moment of diagnosis and averaged 33 weeks. The time elapsed between the injection of the saline solution and the beginning of uterine contractions varied from 6-24 hours. The duration of labor varied from 9-24 hours and averaged 15 hours. Complications included 2 cases of complete and 1 of partial retention of the placenta, 2 cases of hemorrhage due to low serum fibrinogen levels, and 1 case of uterine rupture during labor. In the 2 cases of afibrinogenemia, the serum fibrinogen levels were under 250 mg/100. The sole indication for this procedure in this obstetrical service is fetal retention following death in utero in the last 2 trimesters of pregnancy. Prostaglandins are not routinely available as yet. Saline instillation under the circumstances has proven satisfactory even though sonography is not available for locating the placenta.
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PMID:[Pregnancy termination using an intraamniotic injection of hypertonic saline solution (salting out): our experience]. 1231 26


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