scholarly journals Hemoglobin "Pylos": Study of a Hemoglobinopathy Resembling Thalassemia in the Heterozygous, Homozygous and Double Heterozygous State

Blood ◽  
1962 ◽  
Vol 19 (1) ◽  
pp. 1-22 ◽  
Author(s):  
PHAEDON FESSAS ◽  
GEORGES STAMATOYANNOPOULOS ◽  
ARIS KARAKLIS
Keyword(s):  
Double Effect ◽  
Red Cells ◽  
Heterozygous State ◽  
Gene Effect ◽  
Abnormal Hemoglobin ◽  
Homozygous Individual ◽  
Thalassemia Trait ◽  
Very High

Abstract Eight Greek families are reported in which an hereditary hemoglobin abnormality was present. The abnormal hemoglobin is provisionally called Hgb "Pylos" (= Lepore?) and its properties are described. The pattern of inheritance suggests a one gene effect. In the heterozygous state the abnormality manifests itself by the presence of low amounts of Hgb "Pylos", low amounts of Hgb A2 and mild increase of Hgb F together with quantitative and qualitative alterations of the red cells as observed in thalassemia trait. In one homozygous individual, complete absence of Hgb A and Hgb A2 as well as very high amounts of Hgb F were observed, together with a clinical and hematologic picture resembling overt thalassemia. The combination with A2-thalassemia was observed in five cases and manifested itself by a clinical and hematologic picture of rather moderately severe thalassemia, by complete absence of Hgb A and by predominance of Hgb F. In both the homozygote and the double heterozygotes the amount of Hgb "Pylos" was within the range found for heterozygotes. The findings are discussed and it is concluded that the abnormal gene is allelomorphic to the gene controlling synthesis of β-chains; however, it appears to affect concomitantly the synthesis of δ-chains. The possible interpretations of this double effect are presented.

scholarly journals Alpha-chain Thalassemia and Hydrops Fetalis in Malaya: Report of Five Cases

Blood ◽  
1962 ◽  
Vol 20 (5) ◽  
pp. 581-590 ◽  
Author(s):  
LIE-INJO LUAN ENG
Keyword(s):  
Blood Transfusion ◽  
Red Cells ◽  
Hydrops Fetalis ◽  
Target Cells ◽  
Alpha Chain ◽  
Chinese Origin ◽  
Abnormal Hemoglobin ◽  
Hb Bart's ◽  
Very High ◽  
Hemoglobin A2

Abstract Five cases of severe hydrops and erythroblastosis fetalis in association with a large amount of Hb "Bart’s," all of Chinese origin, are described. The following characteristic clinical and hematologic symptoms were found. There were generalized hydrops, ascites and gross enlargement of the liver. The spleen, however, was not always enlarged. The placenta was large and friable. Severe erythroblastosis of the blood was always found, with reticulocytosis, many target cells and thin cells. The MCV of the red cells was very high. The cells showed an interesting sickling phenomenon. No evidence of isoimmunization was found. In eight parents examined, no abnormal hemoglobin was detected, and alkali-resistant hemoglobin and hemoglobin A2 were not found to be increased. Their blood showed microcytosis of the red cells except in one father and one mother. In this mother, however, the blood was examined after a blood transfusion. It is thought probable that these were cases of homozygous α-chain thalassemia.

scholarly journals The Interaction of Hemoglobin E With β Thalassemia: A Study of Hemoglobin Synthesis in a Family of Mixed Burmese and Iranian Origin

Blood ◽  
1973 ◽  
Vol 42 (5) ◽  
pp. 783-791 ◽  
Author(s):  
Robert Feldman ◽  
Ronald F. Rieder
Keyword(s):  
Bone Marrow ◽  
Specific Activity ◽  
Family Members ◽  
Hemoglobin F ◽  
Hemoglobin E ◽  
Hemoglobin Synthesis ◽  
Abnormal Hemoglobin ◽  
Thalassemia Trait ◽  
Mixed Origin

Abstract A 5-yr-old girl with hemoglobin E-β thalassemia was discovered in a family of mixed origin. The father is Iranian (β-thalassemia trait) and the mother is Burmese (hemoglobin-E trait). Hemoglobin synthesis was studied in vitro in the blood of the proposita and family members. In the subjects with hemoglobin E trait the ratio of the quantity of hemoglobin A to hemoglobin E was 3:1. However. the βA/βE synthesis ratio in reticulocytes was in the range of 1.5-2.18, and the specific activity of βE was 31%-49% greater than βA, suggesting instability of hemoglobin E with preferential destruction of abnormal hemoglobin. The blood of the proposita exhibited only hemoglobin F and hemoglobin E and reticulocytes and bone marrow showed no βA synthesis. This Iranian β-thalassemia gene is therefore of the β° type. The βE/α synthesis ratio (approximately 0.74) in blood of the proposita was similar to the βA/α ratio in mildly affected relatives with thalassemia trait. These results suggest that the severity of the hemoglobin E-β thalassemia syndrome is attributable to both instability and defective synthesis of hemoglobin E in association with absent βA synthesis due to a β° thalassemia gene.

Libyan family with beta-thalassemia trait associated with hypercholesterolemia with widespread xanthomas.

1988 ◽  
Vol 34 (11) ◽  
pp. 2385-2386
Author(s):  
D S Sheriff ◽  
M el Fakhri
Keyword(s):  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Erythrocyte Membranes ◽  
Beta Thalassemia ◽  
The Family ◽  
Phospholipid Ratio ◽  
Thalassemia Trait ◽  
High Concentrations ◽  
Very High

Abstract We describe a Libyan family with beta-thalassemia trait associated with unusually high concentrations of hemoglobin A2 and hypercholesterolemia. The family consists of the father, mother, and three sons. The marriage was consanguineous. The concentrations of total cholesterol and low-density lipoprotein cholesterol in serum were very high in two sons who also had widespread xanthomas. The erythrocyte membranes showed a high cholesterol/phospholipid ratio, with no significant susceptibility to lipid peroxidation in vitro.

Prevalence of β-Thalassemia Trait and Abnormal Hemoglobin in Premarital Screening in the Province of Izmir, Turkey

2012 ◽  
Vol 30 (1) ◽  
pp. 46-50 ◽  
Author(s):  
Ahmet Uysal ◽  
Ahmet Genc ◽  
Nilgün Taşyürek ◽  
Bediha Türkyilmaz
Keyword(s):  
Premarital Screening ◽  
Abnormal Hemoglobin ◽  
Thalassemia Trait

An abnormal hemoglobin in red cells of diabetics

1968 ◽  
Vol 22 (2) ◽  
pp. 296-298 ◽  
Author(s):  
Samuel Rahbar
Keyword(s):  
Red Cells ◽  
Abnormal Hemoglobin

scholarly journals Chronic Acquired Hemolytic Anemia Associated with Hemoglobinuria and Raynaud's Phenomena

Blood ◽  
1954 ◽  
Vol 9 (10) ◽  
pp. 959-964 ◽  
Author(s):  
J. A. BONNIN
Keyword(s):  
Hemolytic Anemia ◽  
Clinical History ◽  
Red Cells ◽  
High Concentration ◽  
Very High ◽  
Chronic Hemolytic Anemia

Abstract The clinical history and serological findings in a patient suffering from chronic hemolytic anemia with Raynaud's phenomena and hemoglobinuria are briefly reported. The patient's serum contained a cold antibody in very high concentration, which was active up to a temperature of at least 33.5 C. Its activity in vitro differed from that of the sera of previously reported cases in that the hemolysis of normal red cells was diminished rather than increased by lowering the pH. It is thought probable that the patient's frequent attacks of hemoglobinuria may be correlated with the ease with which hemolysis took place in vitro at the physiological pH.

Risk Factors Associated with Diabetic Retinopathy and Thalassemia Prevalence Survey in Diabetes Mellitus Patients at Six Primary Care Units of Naresuan University Hospital: A Cross-sectional Study

2021 ◽  
Vol 104 (7) ◽  
pp. 1117-1123
Keyword(s):  
Risk Factors ◽  
Primary Care ◽  
Diabetic Retinopathy ◽  
University Hospital ◽  
Beta Thalassemia ◽  
Cross Sectional ◽  
Thalassemia Minor ◽  
Abnormal Hemoglobin ◽  
Thalassemia Trait ◽  
Hba1c Measurement

Objective: To evaluate the risk factors and prevalence of diabetic retinopathy (DR) in both medical and socioeconomic aspects and find prevalence of thalassemia which associated hemoglobin A1c (HbA1c) measurement in diabetes mellitus (DM) patients at six primary care units (PCU) of Naresuan University Hospital (NUH). Materials and Methods: A cross-sectional survey of DM patients participated in annual proactive DR screening program at six PCU of NUH between December 2016 and March 2017 was conducted. Medical data were retrieved from medical records at PCU. Patients were also interviewed to gather socioeconomic information. Fundus examination was done by indirect ophthalmoscope. Three milliliters of blood was collected from each patient on the same day for Hb analysis. Results: Four hundred and eighty-eight DM patients participated in the present study. Mean age, duration of DM, fasting blood sugar (FBS) level, and HbA1c level were 61.2±9.8 years, 8 years (4 to 12), 124 mg/dL (108 to 151.5), and 7.1% (6.5 to 8.1), respectively. Prevalence of overall DR was 2.9% (14 patients) and proliferative DR was 0.2% (1 patient). Risk factors of DR were HbA1c at 7% or more [adjusted OR 4.7 (95% CI 1.4 to 13.5) and p=0.011] and emotional stress [adjusted OR 3.3 (95% CI 1.1 to 9.8) and p=0.033). Thalassemia screening found 116 patients had abnormal hemoglobin. Ninety-three patients were HbE trait, eight were HbE, ten were alpha-thalassemia trait, two were beta-thalassemia trait, one was HbH, one was alpha- and beta-thalassemia trait (α/β), and one was alpha-thalassemia trait and HbE trait (α/E), and all of them were thalassemia minor or intermedia. Only four patients from HbE trait group had DR. The mean HbA1c in all groups of patients with either normal or abnormal hemoglobin were not statistically significant different. Conclusion: The present study showed that HbA1c and emotional stress might have played an important role in association with DR development. Thalassemia minor and intermedia seemed not to associate with HbA1c measurement. Keywords: Diabetic retinopathy; Thalassemia; Primary care unit; Naresuan university; Risk factors

SOME OBSERVATIONS ON THALASSEMIA TRAIT WITH REFERENCE TO THE ENZYMATIC STABILITY OF THE RED CELLS

1969 ◽  
Vol 165 (1 Second Confer) ◽  
pp. 42-53 ◽  
Author(s):  
J. B. Chatterjea ◽  
S. Swarup-Mitra ◽  
S. K. Ghosh
Keyword(s):  
Red Cells ◽  
Enzymatic Stability ◽  
Thalassemia Trait

Design and Performance Analysis of a Solid Oxide Fuel Cell/Gas Turbine (SOFC/GT) Hybrid System Used in Combined Cooling Heating and Power System

2011 ◽  
Author(s):  
Hsiao-Wei D. Chiang ◽  
Chih-Neng Hsu ◽  
Wu-Bin Huang ◽  
Chen-Yin Lin ◽  
Chien-Hsiung Lee ◽  
...  
Keyword(s):  
Fuel Cell ◽  
Power System ◽  
Waste Heat ◽  
Double Effect ◽  
Solid Oxide ◽  
Oxide Fuel ◽  
Exhaust Temperature ◽  
Hybrid Power ◽  
Combined Cooling ◽  
Very High

With high efficiency and very low emissions, fuel cells have been one of the choices of research in current energy development. The Solid Oxide Fuel Cell (SOFC) is a high temperature type fuel cell. It has the characteristic of very high operating temperature 1,027°C (1,300K). The SOFC has the main advantage of very high performance efficiency (over 50%), but also has very high exhaust temperature. Current studies point out that the combination of SOFC and Gas Turbine (GT) can produce efficiency more than 60%. The exhaust temperature of this hybrid power system can be as high as 227–327°C (500–600K). With this waste heat utilized, we can further improve the overall efficiency of the system. A simulation program of SOFC/GT system and the introduction of the concept of Combined Cooling, Heating, and Power System (CCHP) have been used in this study. The waste heat of SOFC/GT hybrid power generation system was used as the heat source to drive an Absorption Refrigeration System (ARS) for cooling. This waste heat enables the SOFC/GT to generate electricity in the system while providing additional cooling and heating capacity. Therefore, we have a combined CCHP system developed using three major modules which are SOFC, GT, and ARS modules. The SOFC module was verified by our test data. The GT and SOFC/GT modules were compared to a commercial code and literature data. Both the single- and double-effect ARS modules were verified with available literature results. Finally, the CCHP analysis simulation system, which combines SOFC, GT, and ARS, has been completed. With this CCHP configuration system, the fuel usability of the system by our definition could be above 100%, especially for the double effect ARS. This analysis system has demonstrated to be a useful tool for future CCHP designs with SOFC/GT systems.

scholarly journals Pattern of hemoglobinopathies and thalassemia in Manipur, India

2020 ◽  
Vol 7 (3) ◽  
pp. 474
Author(s):  
Hidangmayum Dwijaraj Sharma ◽  
Konsam Biona Devi ◽  
Pravin Kumar ◽  
Ksh Birendra Singh ◽  
Diamond Princy J. ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Thalassemia Major ◽  
Average Frequency ◽  
Cross Sectional Study ◽  
Beta Thalassemia ◽  
Cross Sectional ◽  
High Prevalence ◽  
Abnormal Hemoglobin ◽  
Hereditary Persistence ◽  
Thalassemia Trait

Background: Hemoglobinopathies are the commonest genetic disorders worldwide. Thalassemia Major, Thalassemia Intermedia and Sickle Cell Disease are the major disorders that require lifelong management and are to be considered for prevention. In India, Beta-Thalassemia is prevalent across the country, with an average frequency of carriers being 3-4%.Methods: This is a cross sectional study conducted between June 2016 - May 2017 in the Department of Medicine, RIMS Imphal in 453 patients as a workup for anemia and clinically suspected cases of Hemoglobinopathy or beta thalassemia. Blood samples were collected and sent for Haemoglobin Electrophoresis using cellulose alkaline technique.Results: Among the 453 cases of the population surveyed, 35% showed the presence of abnormal hemoglobin. 16% were found to be beta thalassemia carrier, 11.69% HbE trait, 6.62% Homozygous HbE, 0.4% beta thalassemia and 0.7% had Hereditary persistence of HbF.Conclusions: High prevalence of Beta Thalassemia trait occurred more frequently than other Hemoglobinopathies. The study concludes that it is immensely important epidemiologically to explore the haemoglobin variants in Manipur so that the carriers can be detected for prevention of more serious disorder in the future generations.

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