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2.
Rev. chil. cir ; 62(5): 532-539, oct. 2010. tab
Article in Spanish | LILACS | ID: lil-577295

ABSTRACT

Hextend® is a preparation of hetilstarch in a balanced electrolyte solution that contains 143 mEq/L of sodium, 124mEq/L of chloride, 5 mEq/L of calcium 3 mEq/L of potassium 0.9 mEq/L of magnesium, 0.99 g/L of glucose and 24 mEq/L of lactate. It has a volume of distribution similar to blood volume which enables it to stay in the intravascular compartment until it is renally cleared or absorbed by the reticuloendothelial system. It shows a bimodal pattern of clearance with a half life during the first 8 hrs of its infusion of 4.2 hrs and during the 7 days following of 38.2 hrs. Hextend® is currently one of the preferred resuscitation solutions in the hypovolemic patient showing a better profile of effects over hemostasis and acid base status and conferring a better survival over similar patients resuscitated with crystalloids or other synthetic colloids. Hextend® provides an adequate fluid that is effective in the resuscitation of the trauma patient in hypovolemic hemorrhagic shock and promises to become the fluid of choice in the routine management of these patients. There is a need of more randomized prospective studies in the field of trauma using Hextend ® and its combination with the inflammatory cascade modifiers such as ethyl pyruvate among others.


Hextend® es una combinación de hetilalmidón balanceada en una solución de electrolitos que contiene 143 mEq/L de sodio, 124 mEq/L de cloro, 5 mEq/L de calcio, 3 mEq/L de potasio, 0,9 mEq/L de magnesio, 0,99 g/L de glucosa y 24 mEq/L de lactato. Posee un volumen de distribución equivalente al volumen sanguíneo manteniéndose en el compartimento vascular hasta ser excretado vía renal o absorbido por el sistema retículo-endotelial. Estas características le confieren un patrón farmacocinético bimodal con una vida media de 4,2 horas durante las primeras 8 hrs de infusión y de 38,2 h durante los primeros 7 días. Hextend® es actualmente una de las soluciones de reanimación con mejor perfil de efectos sobre la hemostasia y el equilibrio ácido base del paciente en choque hipovolémico y confiere un aumento de la sobrevida, comparado con controles resucitados con cristaloides u otros coloides sintéticos. Esta combinación de hetilalmidón en una solución amortiguadora electrolítica posee mínimos efectos sobre la función hemostática y plaquetaria por lo que actualmente es preferido frente a soluciones cristaloides y otros coloides utilizados en el pasado en la reanimación de pacientes politraumatizados en estado de choque hipovolémico hemorrágico. A su vez, promete transformarse en el fluido de elección en el manejo rutinario de estos pacientes. En relación al uso de este producto es imperativo realizar un mayor número de estudios prospectivos randomizados. La literatura internacional augura un esplendoroso futuro al uso de Hextend®, como también a su posible combinación con modificadores de la cascada inflamatoria, entre otros con el etil piruvato.


Subject(s)
Humans , Electrolytes/administration & dosage , Hemostasis , Hydroxyethyl Starch Derivatives/administration & dosage , Shock/drug therapy , Plasma Substitutes/administration & dosage , Electrolytes/pharmacology , Electrolytes/chemistry , Acid-Base Equilibrium , Hydroxyethyl Starch Derivatives/pharmacology , Hydroxyethyl Starch Derivatives/chemistry , Blood Platelets , Resuscitation , Plasma Substitutes/pharmacology , Plasma Substitutes/chemistry
3.
Nutrition ; 17(7-8): 529-33, 2001.
Article in English | MEDLINE | ID: mdl-11448569

ABSTRACT

The aim of this study was to evaluate the postprandial response to three fat-loading tests in healthy subjects with different apolipoprotein E (apoE) phenotypes. Thirty-four subjects were studied: 15 with apoE3/3 (7 men and 8 women), 12 with apoE4/3 (5 men and 7 women), and 7 with apoE2/3 (4 men and 3 women). All received three oral fat loads at 1-wk intervals in meals rich in monounsaturated fatty acid, polyunsaturated fatty acid, and saturated fatty acid, with retinyl palmitate (60000 IU/m(2) of aqueous vitamin A) to quantify lipoproteins secreted by the intestine. No significant differences in postprandial lipoproteins were found between the three different fat loads. Peaks and incremental areas under the curve of retinyl palmitate in non-chylomicron fractions were higher in the apoE2/3- than in the apoE3/3- and apoE4/3-phenotype groups in meals rich in monounsaturated and polyunsaturated fatty acids (P < 0.05). When the three fat loads were analyzed together, the incremental area under the curve of retinyl palmitate was much higher in the apoE2/3- than in the other apoE-phenotype groups (P = 0.0004). In conclusion, the magnitude of intestinal lipoproteins after fat load, especially with monosaturated and polyunsaturated fatty acids, is higher in subjects with apoE2/3 than in those with apoE3/3 and apoE4/3 phenotypes.


Subject(s)
Apolipoproteins E/metabolism , Dietary Fats/administration & dosage , Lipoproteins/metabolism , Postprandial Period/physiology , Vitamin A/analogs & derivatives , Adult , Apolipoproteins E/classification , Apolipoproteins E/genetics , Area Under Curve , Dietary Fats/metabolism , Diterpenes , Fatty Acids/administration & dosage , Fatty Acids/metabolism , Fatty Acids, Monounsaturated/administration & dosage , Fatty Acids, Monounsaturated/metabolism , Fatty Acids, Unsaturated/administration & dosage , Fatty Acids, Unsaturated/metabolism , Female , Humans , Male , Phenotype , Polymorphism, Genetic , Retinyl Esters , Time Factors
4.
Med Clin (Barc) ; 114(1): 13-5, 2000 Jan 15.
Article in Spanish | MEDLINE | ID: mdl-10782454

ABSTRACT

BACKGROUND: To know the distribution of phenotypes Lp(a) in an young population. METHODS: Lipoprotein levels, lipoprotein(a), apolipoproteins and the Lp(a) phenotypes were determined in 105 children, selected according to their cholesterol concentrations. RESULTS: The Lp(a) concentrations were significantly higher in group with low molecular weight respect to group with high molecular weight. The most frequent isoform was S3. CONCLUSIONS: The Lp(a) concentrations correlate inversely with the molecular weight of Apo(a) isoforms.


Subject(s)
Gene Expression/genetics , Lipoprotein(a)/genetics , Adolescent , Apolipoproteins A/blood , Apolipoproteins A/genetics , Apolipoproteins B/blood , Apolipoproteins B/genetics , Child , Child, Preschool , Cholesterol/blood , Electrophoresis, Agar Gel/methods , Female , Humans , Immunoblotting , Lipoprotein(a)/blood , Male , Molecular Weight , Myocardial Ischemia/blood , Myocardial Ischemia/genetics , Phenotype , Population Surveillance , Protein Isoforms/genetics , Spain
5.
Clin Chim Acta ; 294(1-2): 37-43, 2000 Apr.
Article in English | MEDLINE | ID: mdl-10727671

ABSTRACT

There have been discrepancies in reports of total cholesterol and low density lipoprotein (LDL)-cholesterol levels in patients with acute porphyria. Some studies have found that acute porphyria patients have increased levels while others do not. The aim of this study has been to evaluate the lipid profile in a series of patients with acute porphyria, in order to help clarify these differences. Serum lipoprotein levels were studied in 30 patients (25 women and five men; age:38+/-10 years) with asymptomatic acute porphyria. Controls were 30 healthy volunteers matched for age and gender. For 13 patients and 15 controls, lipoprotein lipase and hepatic lipase activities were determined. Patients exhibited increased levels of total-cholesterol, LDL-cholesterol, high density lipoprotein (HDL)-cholesterol and apolipoprotein (apo)-A1 compared with controls (P4 mmol/l in 15 patients (50%). Levels of total triglycerides, very low density lipoprotein (VLDL)-triglycerides, VLDL-cholesterol, apo-B and lipoprotein(a) were similar in patients and controls. The hepatic lipase activity tended to be lower in patients than controls (33.8+/-17.7 vs. 50.4+/-23.0 pkat/ml; P=0.05). In conclusion, in patients with asymptomatic acute porphyria an increase of total and LDL-cholesterol was found. The cardiovascular risk conferred by this factor may be attenuated by increased HDL-cholesterol and apo-A1.


Subject(s)
Lipoproteins/blood , Porphyrias/blood , Acute Disease , Adult , Apolipoprotein A-I/blood , Apolipoproteins B/blood , Cholesterol/blood , Cholesterol, HDL/blood , Cholesterol, VLDL/blood , Female , Humans , Lipase/blood , Lipoprotein Lipase/blood , Lipoprotein(a)/blood , Lipoproteins, VLDL/blood , Liver/enzymology , Male , Porphyrias/classification , Porphyrias/urine , Porphyrins/urine , Reference Values , Triglycerides/blood
6.
Med Clin (Barc) ; 112(4): 133-7, 1999 Feb 06.
Article in Spanish | MEDLINE | ID: mdl-10074631

ABSTRACT

BACKGROUND: Plasma glucose, insulin and blood pressure are wellknown cardiovascular risk factors, which may be influence by dietary factors. The aim of the study was to investigate whether changes in dietary fatty acids could modify plasma concentration of glucose, insulin and mean blood pressure (MBP). SUBJECTS AND METHODS: Forty two subjects (18 women and 24 men) were placed in four consecutive five week diet periods. Energy intake from proteins, carbohydrates and fats was constant during the study and there was only changes on fatty acids composition. First period was enriched on saturated fatty acids (SFA), second period on monounsaturated fatty acids (MUFA) and third and fourth periods were enriched on polyunsaturated fatty acids (PUFA). Fourth period was also enriched on PUFA n-3. RESULTS: No significant changes were found on glucose and insulin plasma concentration. However, a significant effect was detected on MBP on total population (p < 0.0001) and by gender. MUFA and PUFA n-3 enriched diet decreased significantly MBP compared to SFA enriched diet AGS (85.7, SD 9.1, 87.3, SD 8.7 y 90.3, SD 8.8 mmHg, respectively). In addition, a weak (r = 0.28) but significant (p = 0.002) correlation was found between MBP and plasma insulin. CONCLUSIONS: Diets enriched on MUFA fatty acids and n-3 fatty acids decrease significantly MBP without modifying glucose and insulin plasma concentration.


Subject(s)
Blood Pressure/drug effects , Dietary Fats, Unsaturated/administration & dosage , Fatty Acids, Monounsaturated/administration & dosage , Fatty Acids, Omega-3/administration & dosage , Food, Fortified , Insulin/blood , Analysis of Variance , Blood Glucose/analysis , Blood Glucose/drug effects , Diet/statistics & numerical data , Female , Food, Fortified/statistics & numerical data , Humans , Longitudinal Studies , Male , Middle Aged , Prospective Studies , Reference Values , Statistics, Nonparametric
7.
Med Clin (Barc) ; 113(19): 730-5, 1999 Dec 04.
Article in Spanish | MEDLINE | ID: mdl-10680124

ABSTRACT

BACKGROUND: In Spain the mortality rate due to cardiovascular disease (CVD) is relatively low compared to that of other developed countries. Until now few epidemiological studies have been performed among the global Spanish population to evaluate a relation between CVD risk factors and the lipid profile that could justify our privileged situation. For, this reason, the DRECE study was designed to know the situation at present in Spain respect to the risk of suffering from CVD in particular, the lipid profile. POPULATION AND METHODS: This study included 4,787 subjects (2,324 males and 2,463 females) with an age ranging from 5-60 years, representative of the total Spanish population with these characteristics during the period from 1992 to 1994. Medical history was made for all participants, who also underwent a physical examination. The following parameters were determined: total cholesterol (TC), triglycerides, high-density lipoproteins cholesterol HDLc, cholesterol transported by low-density lipoproteins, LDLc (estimated by the Friedewald's formula), apolipoprotein AI and apoliprotein B (immunoturbidimetry). RESULTS: The results obtained and expressed in mean (SD) show that, although the population has total cholesterol concentrations (190.1 [42.4] and 192.8 [44.8] mg/dl for females and males, respectively) and LDLc (113.9 [37.9] and 117.5 [38.1] mg/dl for females and males, respectively) with values as high as those found in developed countries, the HDLc concentrations (58.6 [13.2] and 51.5 [13.4] mg/dl for women and men, respectively) are also increased and this could be the reason why the mortality rate in Spain caused by CVD is lower than in other countries. CONCLUSIONS: The finding of high HDLc levels and their antiatherogenic role could justify that, at best in part, the rate mortality in Spain is lower than in other developed countries.


Subject(s)
Cholesterol/blood , Triglycerides/blood , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Diet , Female , Humans , Male , Middle Aged , Prevalence , Reference Values , Risk Factors , Spain
8.
Med Clin (Barc) ; 110(17): 641-5, 1998 May 16.
Article in Spanish | MEDLINE | ID: mdl-9656207

ABSTRACT

BACKGROUND: Lipoprotein (a) (Lp[a]) is a known risk factor for coronary heart disease. Lp(a) plasma concentration mainly depends on genetic polymorphism. The aim of this study was evaluate the effect of dietary fat saturation on Lp(a) plasma concentration. SUBJECTS AND METHODS: Forty two subjects (eighteen women and twenty four men) were placed in four consecutive 5 weeks diet periods. Energy intake from proteins, carbohydrates and fats was constant during the study and there were only changes on fatty acids composition. First period was enriched in saturated fatty acids (SFA), second period in monounsaturated fatty acids (MUFA) and third and fourth periods were enriched in polyunsaturated fatty acids (PUFA). Fourth period was also enriched in PUFA n-3 (blue fish). RESULTS: Changes on dietary fat saturation had a significant effect on plasma lipids and lipoproteins. Lp(a) plasma concentration was minimum in SFA phase (6.8 [SD 7.3] mg/dl), increasing during MUFA phase (8.7 [8.5] mg/dl) and was maximum in PUFA n-6 and PUFA n-3 (11.5 [11.1] and 12.7 [11.9] mg/dl, respectively) (p < 0.0001). CONCLUSIONS: Changes on dietary fat saturation significantly modify Lp(a) plasma concentration. These variations went in opposite direction to LDL-cholesterol modifications and were clinically irrelevant.


Subject(s)
Dietary Fats/administration & dosage , Fatty Acids, Monounsaturated/administration & dosage , Fatty Acids, Unsaturated/administration & dosage , Fatty Acids/administration & dosage , Lipids/blood , Lipoprotein(a)/blood , Adult , Cholesterol/blood , Cholesterol, LDL/blood , Data Interpretation, Statistical , Diet , Female , Humans , Lipoproteins/blood , Male , Middle Aged , Sex Factors , Time Factors
9.
Haematologica ; 83(2): 99-103, 1998 Feb.
Article in English | MEDLINE | ID: mdl-9580456

ABSTRACT

BACKGROUND AND OBJECTIVE: alpha-thalassemia is very common on all thalassemic geographical regions. The present work aimed at analyzing the relationship between the degree of microcytosis and hematological parameters and the type of alpha-thalassemic mutation. DESIGN AND METHODS: Five hundred and thirty-six subjects with 4 kinds of alpha-thalassemia were examined using established techniques that determined all hematological parameters, and globin synthesis and molecular biological techniques to study the DNA of globin genes by Southern blotting. RESULTS: Adult carriers of alpha (+)-thalassemia (-alpha/alpha alpha) present very few hematological alterations. In a statistical comparison with normal individuals (alpha alpha/alpha alpha), significant differences were found between the hemocytometric data and the MCV and MCH of heterozygous alpha + thalassemia and the heterozygous alpha zero or homozygous alpha + genotype. Hb H disease was detected in 15 patients, presenting a severe degree of anemia, a significant increase in RDW and globin chain synthesis with an alpha/beta ratio of 0.5 +/- 0.1. INTERPRETATION AND CONCLUSIONS: These data provide reference values for geographical areas where alpha + thalassemia is common. These hematocytometric data, together with hemoglobin analysis, could be useful as a future reference data for new patients diagnosed with alpha-thalassemia.


Subject(s)
Erythrocytes/metabolism , alpha-Thalassemia/genetics , Adolescent , Adult , Age Factors , Aged , Aged, 80 and over , Child , Child, Preschool , Erythrocyte Indices , Female , Genotype , Hematocrit , Hemoglobin H/genetics , Humans , Male , Phenotype , Reticulocyte Count , Sex Factors , Spain , alpha-Thalassemia/blood , alpha-Thalassemia/classification
10.
Am J Nephrol ; 17(5): 445-9, 1997.
Article in English | MEDLINE | ID: mdl-9382164

ABSTRACT

Chronic rejection - also called chronic renal allograft dysfunction (CRAD) - is the main cause of long-term loss of the transplanted kidney, but its pathogenesis is not well known. The aim of this study was to know if lipoproteins, fibrinogen, plasminogen activator inhibitor-1 (PAI-1) and platelet aggregation show more abnormalities in renal transplant patients with CRAD than in those with stable renal function. Sixty patients with renal allograft have been studied; 20 patients with CRAD and 40 controls matched for age, gender and time after transplantation. In a univariate analysis patients with CRAD had higher total serum triglycerides (214+/-153 vs. 133+/-39 mg/dl; p = 0.04) and very-low-density lipoprotein (VLDL) triglycerides (128+/-116 vs. 59+/-29 mg/dl; p = 0.04). Apolipoprotein B levels were also increased in patients with CRAD although this difference was only borderline significant (131+/-58 vs. 98+/-16 mg/dl; p = 0.05). Similarly, there was a trend toward increased total, VLDL, and low-density lipoprotein (LDL) cholesterol and reduced high-density lipoprotein (HDL) cholesterol in CRAD patients, but these differences did not reach statistical significance. Apolipoprotein A-1 and lipoprotein(a) levels were similar in both groups. Neither platelet aggregation nor PAI-1 levels differed between both groups. In contrast, fibrinogen was increased in patients with CRAD (373+/-81 vs. 322+/-62 mg/dl; p = 0.01). In a multivariate analysis triglycerides and fibrinogen were positively correlated to CRAD. These findings add further support to the hypothesis that lipid abnormalities may be involved in the pathophysiology of CRAD. In addition, this is the first report showing that fibrinogen levels are increased in patients with CRAD. Further studies are needed to evaluate a potential role of fibrinogen in the development of CRAD.


Subject(s)
Fibrinogen/metabolism , Graft Rejection/blood , Kidney Transplantation , Lipoproteins/blood , Adult , Apolipoproteins B/blood , Cholesterol, HDL/blood , Chronic Disease , Enzyme-Linked Immunosorbent Assay , Female , Graft Rejection/etiology , Humans , Lipoproteins, LDL/blood , Lipoproteins, VLDL/blood , Male , Plasminogen Activator Inhibitor 1/blood , Platelet Aggregation , Transplantation, Homologous , Triglycerides/blood
11.
Life Sci ; 61(14): 1331-9, 1997.
Article in English | MEDLINE | ID: mdl-9335222

ABSTRACT

The effect of native (n-LDL) and oxidized (ox-LDL) low-density lipoproteins and lysophosphatidylcholines (LPCs) on: (1) vasodilator responses induced by acetylcholine (ACh) in intact rabbit aorta segments, and (2) vasoconstrictor responses to serotonin (5-HT), and potassium (K+) in endothelium denuded segments was investigated. In intact vessels, 100 microg/ml ox-LDL did not modify ACh-induced relaxation, while it was diminished by 300 microg/ml ox-LDL and abolished by 50 microM LPCs. In contrast, this relaxation was unaltered by n-LDL (100 or 300 microg/ml). In deendothelialized arteries, 100 and 300 microg/ml n-LDL as well as 50 microM LPCs did not modify the contractions induced by 5-HT or K+, while 100 or 300 microg/ml ox-LDL increased the 5-HT-induced contraction, without altering those induced by 75 mM K+. Incubation with 100 or 300 microg/ml ox-LDL increased the contractile response to the protein kinase C (PKC) activator phorbol 12,13-dibutyrate (PDB) (0.1-1 microM) in a concentration-dependent manner, which was blocked by staurosporine (0.1 microM), and unaltered by (50 microM) calphostin C or (50 microM) chelerythrine, the three are PKC inhibitors. Preincubation with 0.05 microM PDB increased the contraction elicited by 5-HT, while staurosporine decreased the PDB-induced contraction, and prevented the 5-HT response increase caused by 300 microg/ml ox-LDL. These results suggest that only ox-LDL reduces endothelium-dependent relaxation and elicits PKC activation, and that this activation mediates, at least in part, the vasoconstrictor response to 5-HT.


Subject(s)
Lipoproteins, LDL/metabolism , Protein Kinase C/metabolism , Serotonin/pharmacology , Acetylcholine/pharmacology , Animals , Aorta, Thoracic/drug effects , Aorta, Thoracic/physiology , Enzyme Inhibitors/pharmacology , In Vitro Techniques , Male , Muscle Contraction/drug effects , Muscle Relaxation/drug effects , Muscle, Smooth, Vascular/drug effects , Muscle, Smooth, Vascular/physiology , Phorbol 12,13-Dibutyrate/pharmacology , Potassium/pharmacology , Protein Kinase C/antagonists & inhibitors , Rabbits , Staurosporine/pharmacology
12.
Med Clin (Barc) ; 107(10): 366-70, 1996 Sep 28.
Article in Spanish | MEDLINE | ID: mdl-9036239

ABSTRACT

BACKGROUND: The aim of study was to know the lipoproteins distribution in children and adolescents from the Autonomous Community of Madrid, Spain, and to compare with other studies. MATERIAL AND METHODS: The sample included 3,635 children and adolescents (1,853 males and 1,782 females), 4 to 18 years of age. We measured total cholesterol and triglyceride levels with enzymatic methods, the HDL-cholesterol concentration in the supernatant after precipitation of the rest of the lipoproteins, and LDL-cholesterol concentrations were calculated by Friedewald formula. RESULTS: Total cholesterol levels were 174 +/- 25 mg/dl (4.50 +/- 0.64 mmol/l), triglycerides 60 +/- 24 mg/dl (0.67 +/- 0.28 mmol/l), LDL-cholesterol 100 +/- 22 mg/dl (2.59 +/- 0.58 mmol/l), HDL-cholesterol 61 +/- 13 mg/dl (1.6 +/- 0.34 mmol/l). 19.23% of the children studied had cholesterol levels above 200 mg/dl (> 5.18 mmol/l), and 41.5% of them had levels higher than 180 mg/dl (> 4.66 mmol/l). CONCLUSIONS: The cholesterol levels as well as the HDL-cholesterol levels in the student population of Madrid, Spain, were higher when compared to other studies. Less variation was found in the LDL-cholesterol concentrations.


Subject(s)
Cholesterol/blood , Lipoproteins/blood , Adolescent , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Male , Spain
13.
Acta Paediatr ; 85(1): 38-42, 1996 Jan.
Article in English | MEDLINE | ID: mdl-8834977

ABSTRACT

Increased plasma lipoprotein(a)-Lp(a)-levels are linked to a high risk of cardiovascular disease unrelated to other lipoproteins. It seems that Lp(a) values in childhood remain unaltered up to adulthood. In a randomly chosen population of 1970 children, aged from 4 to 18 years and living in a Spanish community, the following serum parameters were studied: total cholesterol, total triglycerides, Lp(a), high-density lipoprotein cholesterol and low-density lipoprotein cholesterol. Mean Lp(a) serum values were 15.0 +/- 14.7 mg dl-1. No differences were seen between either sex in the first years of childhood. Of the studied children, 15.1% presented Lp(a) concentrations above 30 mg dl-1. A correlation between Lp(a) and total cholesterol concentrations, which disappeared when low-density lipoprotein cholesterol concentrations were corrected according to cholesterol present in Lp(a), was observed.


Subject(s)
Child Development/physiology , Cross-Cultural Comparison , Lipoprotein(a)/blood , Adolescent , Child , Child, Preschool , Cholesterol/blood , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Cohort Studies , Female , Humans , Male , Reference Values , Sampling Studies , Spain/epidemiology
14.
Nouv Rev Fr Hematol (1978) ; 32(4): 265-70, 1990.
Article in English | MEDLINE | ID: mdl-1705322

ABSTRACT

We present the hematologic data of 825 cases of beta-thalassemia trait (687 cases of beta-thalassemia trait and 138 cases of delta beta-thalassemia trait). There were no significant differences between the red cell indices of the patients with beta and delta beta-thalassemia trait. In patients with beta-thalassemia trait, MCV was significantly reduced in 97% of the males and 99% of the females. All the patients with delta beta-thalassemia trait showed low MCV values. Red cell morphology was altered in the vast majority of cases, with basophilic stippling in 96% of the patients. Most patients came from provinces with the highest incidence of malaria in the past.


Subject(s)
Malaria/genetics , Thalassemia/blood , Adolescent , Adult , Child , Child, Preschool , Female , Fetal Hemoglobin/metabolism , Hemoglobin A2/metabolism , Heterozygote , Humans , Malaria/epidemiology , Male , Spain/epidemiology , Thalassemia/genetics
15.
Am J Med Genet ; 32(1): 9-14, 1989 Jan.
Article in English | MEDLINE | ID: mdl-2705488

ABSTRACT

The clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III-10 and III-11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined causes.


Subject(s)
Hemoglobinopathies/genetics , Hemoglobins, Abnormal/genetics , Adult , Blood Protein Electrophoresis , Hemoglobinopathies/blood , Heterozygote , Humans , Hydrogen-Ion Concentration , Male , Oxyhemoglobins/metabolism , Pedigree , Spain
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