Alpha-Thalassemia

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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Haemolytic anaemias

OMIM Number

604131

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p13.3

Description

Thalassemia is an inherited disease caused by faulty synthesis of hemoglobin. The name is derived from the Greek word "thalassa" meaning "the sea" because the condition was first described in populations living near the Mediterranean Sea.

Alpha-thalassemias are characterized by decreased hemoglobin alpha chain synthesis; alpha-zero-thalassemia being the condition where no normal alpha globin is produced, and alpha-plus-thalassemia being the condition where there is reduced globin production.

Alpha-thalassemia is prevalent in Africa, the Mediterranean countries, India, Southeast Asia, Oceania and the Arabian Peninsula. In the Arabian Peninsula, gene frequencies for the alpha 3.7 Kb deletion vary from 0.01 to 0.67, with Oman having the highest values.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604131.1.1United Arab EmiratesFemaleYesYes Anemia; Decreased mean corpuscular volum...Al-Ain Abu Dhabi NM_000558.5:c.56G>AHeterozygousAbbes et al. 1992 Propositus
604131.1.2United Arab EmiratesMaleYes Anemia; Decreased mean corpuscular volum...Al-Ain Abu Dhabi NM_000558.5:c.56G>AHeterozygousAbbes et al. 1992 Father of 604131.1.1
604131.1.3United Arab EmiratesMaleYes Anemia; Decreased mean corpuscular volum...Al-Ain Abu Dhabi NM_000558.5:c.56G>AHeterozygousAbbes et al. 1992 Brother of 604131.1....
604131.1.4United Arab EmiratesFemaleYes Anemia; Decreased mean corpuscular volum...Al-Ain Abu Dhabi NM_000558.5:c.56G>AHeterozygousAbbes et al. 1992 Sister of 604131.1.1
604131.2.1TunisiaFemaleYesNo Decreased mean corpuscular volumeTunis-Bizerte NM_000558.5:c.389T>CHeterozygousAutosomal, DominantDarbellay et al. 1995 Propositus
604131.2.2TunisiaFemaleYesNo Decreased mean corpuscular volumeTunis-Bizerte NM_000558.5:c.389T>CHeterozygousAutosomal, DominantDarbellay et al. 1995 Sister of 604131.2.1
604131.2.3TunisiaFemaleYesNo Anemia; Decreased mean corpuscular volumeTunis-Bizerte NM_000558.5:c.389T>CHomozygousAutosomal, DominantDarbellay et al. 1995 Mother of 604131.2.1
604131.4.1TunisiaFemaleYes Hemoglobin Barts; Microcytic anemia; Hyp...NM_000517.6:c.70G>THeterozygousAutosomalSiala et al. 2004 Proband
604131.4.2TunisiaFemaleYes HypochromiaNM_000517.6:c.70G>THeterozygousAutosomalSiala et al. 2004 Mother of 604131.4.1
604131.5YemenFemale Microcytic anemiaNC_000016.10:g.173384_177187del, NM_000517.6:c.118_124delinsTACTTCHeterozygousOron-Karni et al. 1997 Patient of Yemeni-Je...
604131.6YemenFemale Microcytic anemiaNM_000517.6:c.118_124delinsTACTTCHeterozygousOron-Karni et al. 1997 Patient of Yemeni-Je...
604131.7Lebanon AnemiaNM_000517.6:c.*92A>GAutosomal, RecessiveFarra et al. 2015
604131.8Lebanon AnemiaNM_000517.6:c.*94A>GAutosomal, RecessiveFarra et al. 2015
604131.9.1LebanonMaleYes Hypochromic microcytic anemia; Recurren...NC_000016.10:g.173384_177187del, NM_000517.6:c.95+2_95+6delHeterozygousAutosomal, RecessiveInati et al. 2013 Proband exhibited tw...
604131.9.2LebanonMaleYes Hypochromic microcytic anemia; Increase...NC_000016.10:g.173384_177187del, NM_000517.6:c.95+2_95+6delHeterozygousAutosomal, RecessiveInati et al. 2013 Brother of 604131.9....
604131.9.4LebanonFemaleYes Hypochromic anemiaNC_000016.10:g.173384_177187delHeterozygousAutosomal, RecessiveInati et al. 2013 Mother of 604131.9.1...
604131.10AlgeriaYesBourmedes NM_000558.5:c.113C>GHomozygousAutosomal, RecessiveDahmane-Arbane et al. 1987 Propositus of an Alg...
604131.11.1United Arab EmiratesUnknownNM_000517.6:c.*94A>GHomozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 Identified through t...
604131.11.2United Arab EmiratesUnknown Hemoglobin BartsNC_000016.10:g.173384_177187del, Constant Spring NM_000517.6:c.427T>CHeterozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 Identified through t...
604131.11.3United Arab EmiratesUnknown Hemoglobin BartsNM_000517.6:c.*94A>GHeterozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 Identified through t...
604131.11.4United Arab EmiratesUnknown Hemoglobin BartsNM_000517.6:c.*92A>GHeterozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 Identified through t...
604131.11.5United Arab EmiratesUnknownNC_000016.10:g.173384_177187delHeterozygousEl-Kalla and Baysal, 1998 Identified through t...
604131.13United Arab EmiratesMale Reduced hemoglobin A; Anemia; Decreased ...NM_000517.6:c.*94A>GCompound heterozygousAutosomal, RecessiveTurner et al. 2014 'Case 2' in the publ...
604131.11.G.1United Arab EmiratesUnknown Hemoglobin BartsNC_000016.10:g.173384_177187del, NM_000517.6:c.95+2_95+6delCompound heterozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 4 compound heterozyg...
604131.11.G.5United Arab EmiratesUnknownNC_000016.10:g.173384_177187delHomozygousAutosomal, RecessiveEl-Kalla and Baysal, 1998 46 homozygotes ident...
604131.G.1AlgeriaYes Decreased mean corpuscular volume; Poiki...NC_000016.10:g.173384_177187del, G (Philadelphia) NM_000517.6:c.207C>RHomozygousAutosomal, RecessiveMorle et al. 1984 A large consanguineo...
604131.G.2Saudi ArabiaNC_000016.10:g.173384_177187delHomozygousAutosomal, RecessiveEl-Hazmi, 1986 Four homozygotes and...
604131.G.3Lebanon AnemiaNC_000016.10:g.173384_177187delHomozygousAutosomal, RecessiveFarra et al. 2015 12 Lebanese patients
604131.G.4Lebanon AnemiaNM_000517.6:c.95+2_95+6delHomozygousAutosomal, RecessiveFarra et al. 2015 10 Lebanese patients
604131.G.5Lebanon AnemiaNM_005331.4(HBQ1):c.-16686_-286delAutosomal, RecessiveFarra et al. 2015 4 Lebanese patients
604131.G.6United Arab Emirates Reduced hemoglobin ANC_000016.10:g.173384_177187delHeterozygousTurner et al. 2014 4 patients (2 males ...

Other Reports

Egypt

[See: Lebanon > Smith and Cauchi, 1979]

Lebanon

Smith and Cauchi, 1979, detected Haemoglobin Bart's in 42 neonates of Mediterranean origin. This included 4 Lebanese, 2 Egyptian and 1 Syrian neonate. 

Syria

[See: Lebanon > Smith and Cauchi, 1979]

United Arab Emirates

Varghese et al. 2021 carried out newborn screening of 4410 Emirati infants born between January and December 2018. FA+ hemoglobin Barts (trait) was the most common hemoglobinopathy trait detected with a frequency of 7.73% in Emiratis. 

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