scholarly journals Congenital Polycythemia in Chuvashia

Blood ◽  
1997 ◽  
Vol 89 (6) ◽  
pp. 2148-2154 ◽  
Author(s):  
Adelina Sergeyeva ◽  
Victor R. Gordeuk ◽  
Yuri N. Tokarev ◽  
Lubomir Sokol ◽  
Jaroslav F. Prchal ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Receptor Gene ◽  
Family Members ◽  
Oxygen Affinity ◽  
Pcr Amplification ◽  
Autosomal Recessive Inheritance ◽  
Erythropoietin Receptor ◽  
Unknown Etiology ◽  
Cell Counts ◽  
White Blood Cell Counts

Abstract Familial and congenital polycythemia, not due to high oxygen affinity hemoglobin or reduced 2,3-diphosphoglycerate in erythrocytes, is common in the Chuvash population of the Russian Federation. Hundreds of individuals appear to be affected in an autosomal recessive pattern. We studied six polycythemic Chuvash patients <20 years of age from unrelated families and 12 first-degree family members. Hemoglobins were markedly elevated in the index subjects (mean ± standard deviation [SD] of 22.6 ± 1.4 g/dL), while platelet and white blood cell counts were normal. Although performed in only three of the index subjects, serum erythropoietin concentrations determined by both radioimmune and functional assays were significantly higher in polycythemic patients compared with first-degree family members with normal hemoglobin concentrations. Southern blot analysis of the Bgl 2 erythropoietin gene polymorphism showed that one polycythemic subject was a heterozygote, suggesting the absence of linkage of polycythemia with the erythropoietin gene, assuming autosomal recessive inheritance. Polymerase chain reaction (PCR) amplification of the GGAA and GA minisatellite polymorphic regions of the erythropoietin receptor gene showed no evidence of linkage of phenotype with this gene. We conclude that Chuvash polycythemia may represent a secondary form of familial and congenital polycythemia of as yet unknown etiology. This condition is the only endemic form of familial and congenital polycythemia described.

scholarly journals Genetic Background of Congenital Erythrocytosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1151
Author(s):  
Mary Frances McMullin
Keyword(s):  
Receptor Gene ◽  
Cell Mass ◽  
Oxygen Affinity ◽  
Young Age ◽  
Erythropoietin Receptor ◽  
Congenital Defects ◽  
History Of ◽  
Genetic Mechanisms ◽  
High Oxygen Affinity ◽  
Hemoglobin Variants

True erythrocytosis is present when the red cell mass is greater than 125% of predicted sex and body mass, which is reflected by elevated hemoglobin and hematocrit. Erythrocytosis can be primary or secondary and congenital or acquired. Congenital defects are often found in those diagnosed at a young age and with a family history of erythrocytosis. Primary congenital defects mainly include mutations in the Erythropoietin receptor gene but SH2B3 has also been implicated. Secondary congenital erythrocytosis can arise through a variety of genetic mechanisms, including mutations in the genes in the oxygen sensing pathway, with high oxygen affinity hemoglobin variants and mutations in other genes such as BPMG, where ultimately the production of erythropoietin is increased, resulting in erythrocytosis. Recently, mutations in PIEZ01 have been associated with erythrocytosis. In many cases, a genetic variant cannot be identified, leaving a group of patients with the label idiopathic erythrocytosis who should be the subject of future investigations. The clinical course in congenital erythrocytosis is hard to evaluate as these are rare cases. However, some of these patients may well present at a young age and with sometimes catastrophic thromboembolic events. There is little evidence to guide the management of congenital erythrocytosis but the use of venesection and low dose aspirin should be considered.

scholarly journals A Novel Mutation of the Signal Peptide of the Preproparathyroid Hormone Gene Associated with Autosomal Recessive Familial Isolated Hypoparathyroidism*

1999 ◽  
Vol 84 (10) ◽  
pp. 3792-3796 ◽  
Author(s):  
Thongkum Sunthornthepvarakul ◽  
Sunchai Churesigaew ◽  
Supunnee Ngowngarmratana
Keyword(s):  
Signal Peptide ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Family Members ◽  
Autosomal Recessive Inheritance ◽  
Signal Peptidase ◽  
Normal Position ◽  
Intact Pth ◽  
Amino Acid Signal Peptide ◽  
Amino Acid Signal

Abstract We report a novel mutation of the signal peptide of the prepro-PTH gene associated with autosomal recessive familial isolated hypoparathyroidism. The proposita presented with neonatal hypocalcemic seizures. Serum calcium was 1.5 mmol/L (normal, 2.0–2.5); phosphate was 3.6 mmol/L (normal, 0.9–1.5). She was born to consanguineous parents. A few years later, 2 younger sisters and her niece presented with neonatal hypocalcemic seizures. Their intact PTH levels were undetectable during severe hypocalcemia. Genomic DNA from the proposita was sequenced all exons of the prepro-PTH gene. A replacement of thymine with a cytosine was found in the first nucleotide of position 23 in the 25-amino acid signal peptide. This results in the replacement of the normal Ser (TCG) with a Pro (CCG). Genotyping of family members was carried out by identification of a new MspI site created by the mutation. Only affected family members were homozygous for the mutant allele, whereas the parents were heterozygous, supporting autosomal recessive inheritance. As this mutation is at the− 3 position in the signal peptide of the prepro-PTH gene, we hypothesized that the prepro-PTH mutant might not be cleaved by signal peptidase at the normal position, and it might be degraded in rough endoplasmic reticulum.

Congenital Deficiency of Fibrin-stabilizing Factor (Factor XIII): A Report of Four Cases (Two Families) and Family Members

Blood ◽  
1972 ◽  
Vol 40 (1) ◽  
pp. 11-15 ◽  
Author(s):  
Mohammed A. Aziz ◽  
Azizur Rehman Siddiqui
Keyword(s):  
Factor Xiii ◽  
Autosomal Recessive ◽  
Family Members ◽  
Autosomal Recessive Inheritance ◽  
The Other ◽  
Recessive Inheritance ◽  
Factor Xiii Deficiency ◽  
Congenital Deficiency

Abstract Four patients with congenital deficiency of fibrin-stabilizing factor (factor XIII) from two families have been described. The mother and the sibs in one family and both parents in the other family were found to have varying degrees of factor XIII deficiency. The observations support the hypothesis of autosomal recessive inheritance of factor XIII deficiency.

An Alternative Elastase-mediated Degradation of Fibrinogen and Fibrin Observed in a Patient with Herpes Simplex Encephalitis and Pneumonia

1996 ◽  
Vol 76 (02) ◽  
pp. 184-186 ◽  
Author(s):  
Kenji lijima ◽  
Fumiyo Murakami ◽  
Yasushi Horie ◽  
Katsumi Nakamura ◽  
Shiro Ikawa ◽  
...  
Keyword(s):  
Herpes Simplex ◽  
Blood Cell ◽  
White Blood Cell ◽  
Herpes Simplex Encephalitis ◽  
Pmn Elastase ◽  
Cell Counts ◽  
Blood Cell Counts ◽  
Sds Page ◽  
White Blood Cell Counts ◽  
Pmn Élastase

SummaryA 74-year-old female developed pneumonia following herpes simplex encephalitis. Her white blood cell counts reached 28,400/μl, about 90% of which consisted of granulocytes. The polymorphonuclear (PMN) elastase/α1-arantitrypsin complex levels increased and reached the maximum of 5,019 ng/ml, indicating the release of a large amount of elastase derived from the granulocytes. The mechanism of PMN elastase release was most likely to be granulocyte destruction associated with phagocytosis. The cleavage of fibrinogen and fibrin by PMN elastase, independent of plasmin, was indicated by the presence of the fragments in immunoprecipitated plasma from the patient corresponding to elastase-induced FDP D and DD fragments and the absence of fragments corresponding to plasmin-induced FDP D and DD fragments on SDS-PAGE. These findings suggested that the large amount of PMN elastase released from the excessive numbers of granulocytes in this patient with herpes simplex encephalitis and pneumonia, induced the cleavage of fibrinogen and fibrin without the participation of plasmin.

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