Frequency of Consanguineous Marriages in Patients with Hereditary Blood Disorders in Southern Turkey

2003 ◽  
Vol 6 (1) ◽  
pp. 58-58
Author(s):  
Duran Canatan ◽  
Cavidan Karadoğan ◽  
Nurgül Oğuz ◽  
Nihal Balta ◽  
Rüya Coşan
Keyword(s):  
Blood Disorders ◽  
Consanguineous Marriages ◽  
Southern Turkey ◽  
Hereditary Blood Disorders

Association of hereditary blood disorders and congenital heart disease

Teratology ◽  
1984 ◽  
Vol 29 (2) ◽  
pp. 313-313 ◽  
Author(s):  
Charlotte Ferencz ◽  
Judith D. Rubin ◽  
Robert McCarter ◽  
P. David Wilson ◽  
Joel I. Brenner ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Blood Disorders ◽  
Hereditary Blood Disorders

scholarly journals Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders

2018 ◽  
Vol 115 (38) ◽  
pp. 9574-9579 ◽  
Author(s):  
He Li ◽  
Lu Lu ◽  
Xuejin Li ◽  
Pierre A. Buffet ◽  
Ming Dao ◽  
...  
Keyword(s):  
Hereditary Spherocytosis ◽  
Severe Disease ◽  
Blood Disorders ◽  
Pathogenic Role ◽  
Human Spleen ◽  
Two Component ◽  
Hereditary Blood Disorders ◽  
Unique Ability

In red blood cell (RBC) diseases, the spleen contributes to anemia by clearing the damaged RBCs, but its unique ability to mechanically challenge RBCs also poses the risk of inducing other pathogenic effects. We have analyzed RBCs in hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), two typical examples of blood disorders that result in membrane protein defects in RBCs. We use a two-component protein-scale RBC model to simulate the traversal of the interendothelial slit (IES) in the human spleen, a stringent biomechanical challenge on healthy and diseased RBCs that cannot be directly observed in vivo. In HS, our results confirm that the RBC loses surface due to weakened cohesion between the lipid bilayer and the cytoskeleton and reveal that surface loss may result from vesiculation of the RBC as it crosses IES. In HE, traversing IES induces sustained elongation of the RBC with impaired elasticity and fragmentation in severe disease. Our simulations thus suggest that in inherited RBC disorders, the spleen not only filters out pathological RBCs but also directly contributes to RBC alterations. These results provide a mechanistic rationale for different clinical outcomes documented following splenectomy in HS patients with spectrin-deficient and ankyrin-deficient RBCs and offer insights into the pathogenic role of human spleen in RBC diseases.

scholarly journals Shape and Biomechanical Characteristics of Human Red Blood Cells in Health and Disease

MRS Bulletin ◽  
2010 ◽  
Vol 35 (5) ◽  
pp. 382-388 ◽  
Author(s):  
Monica Diez-Silva ◽  
Ming Dao ◽  
Jongyoon Han ◽  
Chwee-Teck Lim ◽  
Subra Suresh
Keyword(s):  
Blood Cells ◽  
Biological Function ◽  
Essential Feature ◽  
Blood Disorders ◽  
Human Red Blood Cells ◽  
Pathological Conditions ◽  
Health And Disease ◽  
Hereditary Blood Disorders ◽  
Human Rbcs

AbstractThe biconcave shape and corresponding deformability of the human red blood cell (RBC) is an essential feature of its biological function. This feature of RBCs can be critically affected by genetic or acquired pathological conditions. In this review, we highlight new dynamicin vitroassays that explore various hereditary blood disorders and parasitic infectious diseases that cause disruption of RBC morphology and mechanics. In particular, recent advances in high-throughput microfluidic devices make it possible to sort/identify healthy and pathological human RBCs with different mechanobiological characteristics.

scholarly journals A community-based study of common hereditary blood disorders in Oman

2001 ◽  
Vol 7 (06) ◽  
pp. 1004-1011
Author(s):  
A. A. Al Riyami
Keyword(s):  
Gender Differences ◽  
Sickle Cell ◽  
Dehydrogenase Deficiency ◽  
Prevalence Rates ◽  
Blood Disorders ◽  
Community Based ◽  
Blood Samples ◽  
Beta Thalassaemia ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Hereditary Blood Disorders

Weassessed the prevalence of three common hereditary blood disorders [sickle-cell and beta-thalassaemia traits and glucose 6-phosphate dehydrogenase deficiency] among the Omani population. We interviewed a representative sample of 6103 Omani households and blood samples from 6342 children aged 0-5 years were collected. About 27% of Omani males had inherited glucose-6-phosphate dehydrogenase deficiency [compared with 11% of females] while countrywide prevalence rates for the sickle-cell and beta-thalassaemia traits were estimated to be 5.8% and 2.2% respectively and showed no significant gender differences. There was a significant association between all three disorders and region of the country.

Gene therapy and editing in the treatment of hereditary blood disorders: Medical and ethical aspects

2021 ◽  
pp. 147775092110572
Author(s):  
Paula Cano Alburquerque ◽  
Lucía Gómez-Tatay ◽  
Justo Aznar
Keyword(s):  
Gene Therapy ◽  
Gene Editing ◽  
Genetic Diseases ◽  
Fanconi Anaemia ◽  
Ethical Aspects ◽  
Blood Disorders ◽  
Cost Of Treatment ◽  
Genetic Changes ◽  
Safety Issues ◽  
Hereditary Blood Disorders

Gene therapy and gene editing are revolutionising the treatment of genetic diseases, most notably haematological disorders. This paper evaluates the use of both techniques in hereditary blood disorders. Many studies have been conducted in this field, especially with gene therapy, with very promising results in diseases such as haemophilia, certain haemoglobinopathies and Fanconi anaemia. The application of these techniques in clinical practice and the foreseeable development of these approaches in the coming years suggest that it might be useful to evaluate the results achieved thus far. It is also essential to reflect on the possible bioethical concerns raised by the use of both techniques, especially in terms of safety issues for patients, potential side effects, treatment duration, accessibility and cost of treatment, and the heritability of genetic changes produced if germline cells are used.

scholarly journals Should Premarital Screening for Blood Disorders be an Obligatory Measure in Oman?

2018 ◽  
Vol 18 (1) ◽  
pp. 24
Author(s):  
Amal A. Al-Balushi ◽  
Budoor Al-Hinai
Keyword(s):  
Sickle Cell Disease ◽  
Carrier Screening ◽  
High Rate ◽  
Cell Disease ◽  
Blood Disorders ◽  
National Healthcare ◽  
High Prevalence ◽  
National Healthcare System ◽  
Premarital Screening ◽  
Hereditary Blood Disorders

Due to the high rate of consanguineous marriages in Oman, there is a correspondingly high prevalence of hereditary blood disorders, particularly sickle cell disease and β-thalassaemia. This article proposes the possibility of implementing mandatory premarital carrier screening for blood disorders in Oman, while giving due consideration to potential social and cultural obstacles. Although the implementation of such legislation would require collaboration between different sectors and may negatively affect the autonomy of certain individuals, mandatory premarital screening would help to alleviate the burden of hereditary blood disorders on the national healthcare system, as well as reduce avoidable suffering among carriers and their families.

The Age of Autonomy

2018 ◽  
Author(s):  
Stefan Winter
Keyword(s):  
Eighteenth Century ◽  
Paradigm Shift ◽  
Large Scale ◽  
Social Disparities ◽  
Local Autonomy ◽  
Economic Context ◽  
Southern Turkey ◽  
Leadership Structure ◽  
Landed Gentry ◽  
Tribal Leadership

This chapter follows the rise to power of the Shamsins, the Bayt al-Shillif, and associated ʻAlawi families as Ottoman tax concessionaries. It shows that their position of local autonomy, rather than having evolved out of some domestic or “tribal” leadership structure, resulted from a paradigm shift in Ottoman provincial administration as well as from a very favorable economic context, in particular the development of commercial tobacco farming in the northern highlands around Latakia. If the eighteenth century witnessed the emergence of a veritable Ottoman–ʻAlawi landed gentry, it also saw increasing social disparities lead to large-scale emigration away from the highlands toward the coastal and inland plains as well as toward the Hatay district of what is today southern Turkey.

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