The alpha-globin gene cluster: genetics and disorders

Waye, John S.; Chui, David H. K.
April 2001
Clinical & Investigative Medicine;Apr2001, Vol. 24 Issue 2, p103
Academic Journal
Presents a study which discussed the alpha-globin gene cluster. Causes of alpha-thalassemia; Association of alpha-thalassemia with mental retardation; Interaction with beta-globin gene mutations; Significance of carrier screening and prenatal diagnosis; Details on the case of Ontario.


Related Articles

  • The Alpha Thalassaemias. Higgs, D. R.; Weatherall, D. J. // Cellular & Molecular Life Sciences;Apr2009, Vol. 66 Issue 7, p1154 

    Recent work in the α thalassaemia field has started to provide some indication of the mechanisms involved in the very high frequency of the different forms of α thalassaemia among the populations of tropical countries, and, at the same time, is starting to define at least some of the...

  • Attempted PGD of thalassaemia using sequential first and second polar body analysis in Iran. Salehi, M.; Salehi, R.; Mousazedeh, M.; Sabahi, A. R. // Reproductive BioMedicine Online (Reproductive Healthcare Limited;2002 Supplement 2, Vol. 4 Issue S2, p43 

    Objective: β-thalassaemia is a major health concern in Iran. At present prenatal diagnosis and selective abortion of affected fetuses is the only method for prevention of this disease. Due to ethical and social concerns with abortion, preliminary steps in our university for preimplantation...

  • Co-Inheritance of Beta & Delta-Globin Gene (HbYialousa) Mutations in an Iranian β-Thalassemia Carrier. Valaei, Atefeh; Eghbalpour, Farnaz; Kainimoghaddam, Zahra; Bayat, Fatemeh; Basmanj, Maryam Taghavi; Karimipoor, Morteza; Zeinali, Sirous // International Journal of Clinical Medicine;Dec2012, Vol. 3 Issue 7, p633 

    Introduction: Beta-thalassemia is characterized by absence or reduced synthesis of the β-globin. Carriers of β-thalassemia, typically have microcytic hypochromic anemia and elevated hemoglobin HbA2 and normal HbF level. On the other hand carriers of severe alpha-thalassemia also have...

  • Hemoglobin Fontainebleau [a21(B2)Ala>Pro]: The second report from India. Mashon, Ranjeet Singh; Nair, Sona; Sawant, Pratibha; Colah, Roshan B.; Ghosh, Kanjaksha; Das, Sheila // Indian Journal of Human Genetics;Jul-Sep2013, Vol. 19 Issue 3, p352 

    Structural hemoglobin (Hb) variants are mainly due to point mutations in the globin genes resulting in single amino acid substitutions. Until date, about 200 alpha chain variants have been identified and they are usually detected during the hemoglobinopathy screening programs. Under a community...

  • Distribution of β-Globin Gene Mutations in Thalassemia Minor Population of Kerman Province, Iran. Saleh-Gohari, N.; Bazrafshani, M. R. // Iranian Journal of Public Health;2010, Vol. 39 Issue 2, p69 

    Background: Mutations in β-globin gene may result in β-thalassemia major, which is one of the most common genetic disorders in Iran and some other countries. Knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses (major -thalassemia)...

  • The Problem of Borderline Hemoglobin A2 Levels in the Screening for β-Thalassemia Carriers in Sardinia. Paglietti, Maria Elisabetta; Satta, Stefania; Sollaino, Maria Carla; Barella, Susanna; Ventrella, arianna; Desogus, Maria Franca; Demartis, Franca Rosa; Manunza, Laura; Origa, Raffaella // Acta Haematologica;May2016, Vol. 135 Issue 4, p193 

    Background: The increase in HbA2 is the most important parameter for the identification of thalassemia carriers. However, in routine screening for hemoglobinopathies, some cases are difficult to classify because the level of HbA2 is not typically elevated. In this work, we report the results of...

  • Genetic modifiers of Hb E/β0 thalassemia identified by a two-stage genome-wide association study. Sherva, Richard; Sripichai, Orapan; Abel, Kenneth; Ma, Qianli; Whitacre, Johanna; Angkachatchai, Vach; Makarasara, Wattanan; Winichagoon, Pranee; Svasti, Saovaros; Fucharoen, Suthat; Braun, Andreas; Farrer, Lindsay A. // BMC Medical Genetics;2010, Vol. 11, p51 

    Background: Patients with Hb E/b0 thalassemia display remarkable variability in disease severity. To identify genetic modifiers influencing disease severity, we conducted a two-stage genome scan in groups of 207 mild and 305 severe unrelated patients from Thailand with Hb E/β0 thalassemia and...

  • Frequency of haemoglobinopathies at premarital health screening in Dohuk, Iraq: implications for a regional prevention programme. Al-Allawi, N. A.; Al-Dousky, A. A. // Eastern Mediterranean Health Journal;abr2010, Vol. 16 Issue 4, p381 

    �-thalassaemia major and sickle-cell disease are important health problems in Iraq. To provide information for a prevention programme, the frequency of haemoglobin disorders was mapped in Dohuk governorate. A total of 591 couples (1182 individuals) attending health centres for premarital...

  • Better screening needed for sickle cell and thalassaemia. Blythe, Jenny // BMJ: British Medical Journal (International Edition);07/29/2000, Vol. 321 Issue 7256, p260 

    Discusses a report on the cost effectiveness of universal antenatal screening for sickle cell disease and thalassemia in Great Britain. Suggestion that such screening programs would benefit from partnerships between health authorities; Impact of screening on women's decision-making during...


Read the Article


Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics