Beta-Thalassemia

Associated Genes

Hemoglobin - Beta Locus
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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

613985

Mode of Inheritance

Autosomal recessive, Autosomal dominant

Gene Map Locus

11p15.4

Description

Beta-thalassemia is characterized by the deficiency (beta-plus-thalassemia) or absence (beta-zero-thalassemia) of beta-globin chain – one of the two sub-units that make up the hemoglobin tetramer. The resultant imbalance in globin chain production affects normal development of red blood cells, which in turn leads to signs and symptoms associated with beta-thalassemia. Based on the severity of clinical features, beta-thalassemia is classified into thalassemia major, thalassemia intermedia, and thalassemia minor.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
603903.1United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 Patient with sickle ...
603903.2United Arab EmiratesUnknown Anemia... NM_000518.5:c.118C>T, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 Patient with sickle ...
603903.3United Arab EmiratesUnknown Anemia... HbS NM_000518.5:c.20A>T, NM_000518.4:c.114G>AHeterozygousBaysal, 2005 Patient with sickle ...
603903.4United Arab EmiratesUnknown Anemia... NM_000518.5:c.315+1G>A, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 Patient with sickle ...
603903.5United Arab EmiratesUnknown Anemia... Hb Monroe NM_000518.5:c.92G>C, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 Patient with sickle ...
604131.9.1LebanonMaleYes Hypochromic microcytic anemia; Recurren... 3.7 kb del, NM_000517.6:c.95+2_95+6del, NG_059281.1:g.4962G>CHeterozygousAutosomal, RecessiveInati et al. 2013 Proband exhibited tw...
604131.9.2LebanonMaleYes Hypochromic microcytic anemia; Increase... 3.7 kb del, NM_000517.6:c.95+2_95+6del, NG_059281.1:g.4962G>CHeterozygousAutosomal, RecessiveInati et al. 2013 Brother of 604131.9....
604131.9.4LebanonFemaleYes Hypochromic anemia... 3.7 kb del, NG_059281.1:g.4962G>CHeterozygousAutosomal, RecessiveInati et al. 2013 Mother of 604131.9.1...
613985.1LebanonMaleNo Anemia; Skin ulcer; Arterial stenosis; M... NM_000518.5:c.93-21G>AHomozygousEl Rassi et al, 2009 Beta-thalassemia int...
613985.2AlgeriaUnknownYesYes Anemia Fatigue Pallor ... NM_000518.5:c.92+5G>AHomozygousLapoumeroulie et al. 1986
613985.3AlgeriaFemale Anemia... NM_000518.5:c.316-8T>GHomozygousBeldjord et al. 1988
613985.6EgyptMale Anemia ... NM_000518.5:c.316-3C>AWong et al. 1989 Patient presented wi...
613985.7Saudi ArabiaMaleYes Anemia; Fatigue; Pallor ... NM_000518.5:c.93-21G>A, NM_000518.5:c.93-3T>GWong et al. 1989 β+thalassaemia major...
613985.8EgyptMale Decreased mean corpuscular volume; Hypoc... NM_000518.5:c.92+6T>C, NM_000518.5:c.93-1G>AHeterozygousDeidda et al. 1990
613985.9EgyptMale Anemia; Hepatomegaly; Splenomegaly ... NM_000518.5:c.*110_*114delHomozygousEl-Kalla and Mathews, 1997
613985.10.1IraqMaleYes Anemia; Decreased mean corpuscular volum... NM_000518.5:c.315+1G>A, Hb Iraq-Halabja NM_000518.5:c.32C>THeterozygousDeutsch et al. 1999 Proband (patient #34...
613985.10.2IraqMaleYes Hemolytic anemia; Persistence of hemoglo... NM_000518.5:c.315+1G>AHeterozygousDeutsch et al. 1999 Son of Proband (pati...
613985.10.3IraqMaleYes Anemia; Decreased mean corpuscular volum... NM_000518.5:c.315+1G>A, Hb Iraq-Halabja NM_000518.5:c.32C>THeterozygousDeutsch et al. 1999 Brother of proband (...
613985.10.4IraqFemaleYes Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>AHeterozygousDeutsch et al. 1999 Niece of proband (pa...
613985.10.5IraqMaleYes NM_000518.5:c.315+1G>AHeterozygousDeutsch et al. 1999 Nephew of proband (p...
613985.11KuwaitMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.12KuwaitFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.13KuwaitFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.14KuwaitFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.15JordanFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.16JordanFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.17JordanMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.18IraqMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>A, NM_000518.5:c.-78A>CHeterozygousAdekile et al. 2005 Patient from 'family...
613985.19JordanFemale Anemia; Persistence of hemoglobin F... NM_000518.5:c.93-21G>AHeterozygousAdekile et al. 2005 Patient from 'family...
613985.21.1MoroccoFemale Abnormal hemoglobin... Hb Casablanca NM_000518.4:c.[197A>T;367T>C]Wajcman et al., 2000 Proband
613985.21.2MoroccoMale Hb Casablanca NM_000518.4:c.[197A>T;367T>C]Wajcman et al., 2000 Son of Proband, vari...
613985.22MoroccoFemale Asthenia; Anemia; Abnormal hemoglobin... Hb Tsukumi NM_000518.5:c.349C>TNorth et al. 2001
613985.24.1LebanonMaleYesYes Anemia; Pallor... NM_000518.5:c.93-21G>A, NM_000518.5:c.27dupHeterozygousZalloua et al. 2003 Proband
613985.27.1IraqFemaleYesNo Hypochromic microcytic anemia; Graves di... NM_000518.5:c.118C>THeterozygousGiordano et al. 1994 Propositus of an Ira...
613985.27.2IraqMaleYesNo Hypochromic microcytic anemia... NM_000518.5:c.118C>THeterozygousGiordano et al. 1994 Father of 613985.27....
613985.27.3IraqMaleYesNo Hypochromic microcytic anemia... NM_000518.5:c.118C>T, Kurdistan NM_000517.6:c.142G>THeterozygousGiordano et al. 1994 Brother of 613985.27...
613985.28United Arab EmiratesUnknown Anemia... NM_000518.5:c.251delHomozygousBaysal, 2001 Patient with β-thala...
613985.29United Arab EmiratesUnknown Anemia... NM_000518.5:c.25_26delHomozygousBaysal, 2001 Patient with β-thala...
613985.30United Arab EmiratesUnknown Anemia... NM_000518.5:c.25_26del, NM_000518.5:c.315+1G>AHeterozygousBaysal, 2005 Patient with β-thala...
613985.31United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21_96del, NM_000518.5:c.135delHeterozygousBaysal, 2005 Patient with β-thala...
613985.32United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.*110_*114delHeterozygousBaysal, 2005 Patient with β-thala...
613985.33United Arab EmiratesUnknown Anemia... NM_000518.5:c.118C>T, NM_000518.5:c.316-3C>AHeterozygousBaysal, 2005 Patient with β-thala...
613985.34United Arab EmiratesUnknown Anemia... NM_000518.5:c.27dup, NM_000518.5:c.47G>AHeterozygousBaysal, 2005 Patient with β-thala...
613985.35United Arab EmiratesUnknown Anemia... NM_000518.5:c.27dup, NM_000518.5:c.112delHeterozygousBaysal, 2005 Patient with β-thala...
613985.36United Arab EmiratesUnknown Anemia... Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.-151C>THeterozygousBaysal, 2005 Patient with β-thala...
613985.37United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.93-21G>AHeterozygousBaysal, 2005 Patient with β-thala...
613985.38United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.47G>AHeterozygousBaysal, 2005 Patient with β-thala...
613985.39United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.118C>THeterozygousBaysal, 2005 Patient with β-thala...
613985.40United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.135delHeterozygousBaysal, 2005 Patient with β-thala...
613985.41United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.92+5G>CHeterozygousBaysal, 2005 Patient with β-thala...
613985.42United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.251delHeterozygousBaysal, 2005 Patient with β-thala...
613985.43United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+6T>C, Hb D-Punjab NM_000518.5:c.364G>CHeterozygousBaysal, 2005 Patient with β-thala...
613985.44United Arab EmiratesUnknown Anemia... NM_000518.5:c.315+1G>A, NM_000518.5:c.251delHeterozygousBaysal, 2005 Patient with β-thala...
141749.G.2.2AlgeriaFemaleYesYes Persistence of hemoglobin F; Increased H... NM_000518.5:c.118C>T, NM_000184.2:c.-167C>AHeterozygousAutosomal, DominantZertal-Zidani et al. 1999 4 females belonging ...
141749.G.2.3AlgeriaYesYes Increased HbA2 hemoglobin; Decreased mea... NM_000518.5:c.118C>THeterozygousAutosomal, DominantZertal-Zidani et al. 1999 2 males and 1 female...
603903.G.2.2United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 17 patients with sic...
603903.G.2.3United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21_96del, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 4 patients with sick...
603903.G.2.5United Arab EmiratesUnknown Anemia... NM_000518.5:c.135del, HbS NM_000518.5:c.20A>THeterozygousBaysal, 2005 2 patients with sick...
603903.G.2.6United Arab EmiratesUnknown Anemia... HbS NM_000518.5:c.20A>T, NM_000518.5:c.251delHeterozygousBaysal, 2005 2 patients with sick...
603903.G.3.1Arab; United Arab Emir...Unknown Anemia... NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, HbS NM_000518.5:c.20A>T, NM_000518.5:c.251del, NM_000518.4:c.114G>AEl-Kalla and Baysal, 1998 Mutations identified...
613985.G.1.1LebanonUnknown Anemia; Fatigue; Pallor... NM_000518.5:c.0_92+25del, NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.93-21_96del, NM_000518.5:c.135del, NM_000518.5:c.315+1G>AZahed et al, 1997 Unknown number of pa...
613985.G.1.2LebanonUnknown Anemia; Fatigue; Pallor... NM_000518.5:c.-138C>T, NM_000518.5:c.-137C>G, NM_000518.5:c.-80T>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.316-106C>GZahed et al, 1997 Unknown number of pa...
613985.G.1.3LebanonUnknown Anemia; Fatigue; Pallor... NM_000518.5:c.90C>T, NM_000518.5:c.92G>AZahed et al, 1997 Unknown number of pa...
613985.G.2.1Saudi ArabiaUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.315+1G>A, NM_000518.5:c.-50A>C, NM_000518.5:c.20del, NM_000518.5:c.27dupel-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.2.2JordanUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+1G>A, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>A, NM_000518.5:c.316-106C>G, NM_000518.5:c.27dupel-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.2.3EgyptUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+1G>A, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>A, NM_000518.5:c.316-106C>Gel-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.2.4SyriaUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+1G>A, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.315+1G>A, NM_000518.5:c.316-106C>Gel-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.2.5LebanonUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.315+1G>A, NM_000518.5:c.316-106C>Gel-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.2.6YemenUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>Ael-Hazmi et al, 1995 Beta-thalassemia mut...
613985.G.3.1LebanonUnknownNo Anemia; Fatigue; Pallor ... NM_000518.5:c.-138C>T, NM_000518.5:c.-137C>G, NM_000518.5:c.90C>T, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.316-106C>GHomozygousMakhoul et al. 2005 Patients with beta-p...
613985.G.3.2LebanonUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.0_92+25del, NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.93-21_96del, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.112delHeterozygous, HomozygousMakhoul et al. 2005 Patients with beta-z...
613985.G.4AlgeriaUnknown Anemia Fatigue Pallor ... NM_000518.5:c.20del, NM_000518.5:c.92+2T>CHeterozygousBouhass et al. 1990 Mutations identified...
613985.G.5BahrainUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+1G>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, NM_000518.5:c.-138C>A, NM_000518.5:c.47G>A, NM_000518.5:c.110del, NM_000518.5:c.126_129delJassim et al. 1998 Mutations identified...
613985.G.6ComorosUnknown Anemia; Pallor ... NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.315+1G>A, NM_000518.5:c.2T>CBadens et al. 2000 Mutations identified...
613985.G.7IraqUnknown Anemia ... NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.68_74delAl-Allawi et al. 2006 Mutations identified...
613985.G.8IraqUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, NM_000518.5:c.47G>AJalal et al. 2010 Mutations identified...
613985.G.9.1KuwaitUnknown Anemia ... NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, NM_000518.5:c.112delAdekile et al. 1994 Mutations identified...
613985.G.9.2EgyptUnknown Anemia ... NM_000518.5:c.93-21G>AAdekile et al. 1994 Mutations identified...
613985.G.9.3PalestineUnknown Anemia ... NM_000518.5:c.118C>TAdekile et al. 1994 Mutations identified...
613985.G.9.4LebanonUnknown Anemia ... NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>AAdekile et al. 1994 Mutations identified...
613985.G.10KuwaitMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 2 patient from 'fami...
613985.G.11KuwaitMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.25_26del, NM_000518.5:c.-151C>THeterozygousAdekile et al. 2005 3 patient from 'fami...
613985.G.12Kuwait Anemia; Persistence of hemoglobin F... NM_000518.5:c.25_26del, NM_000518.5:c.315+1G>AHeterozygousAdekile et al. 2005 2 patient from 'fami...
613985.G.13KuwaitMale Anemia; Persistence of hemoglobin F... NM_000518.5:c.92+6T>C, Hb Malay NM_000518.5:c.59A>GHeterozygousAdekile et al. 2005 2 patient from 'fami...
613985.G.14OmanUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+5G>CEl-Kalla and Mathews, 1993 15 patients with tra...
613985.G.15.1OmanUnknown Anemia; Fatigue; Pallor ... NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.*110_*114del, NM_000518.5:c.93-1G>CEl-Kalla and Mathews, 1997 Mutations identified...
613985.G.15.2PalestineUnknown Anemia; Fatigue; Pallor ... Hb Knossos NM_000518.5:c.82G>TEl-Kalla and Mathews, 1997 Mutation identified ...
613985.G.16United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.112del, NM_000518.5:c.47G>A, NM_000518.5:c.316-3C>A, NM_000518.5:c.-151C>T, NM_000518.5:c.93-1G>C, NM_000518.5:c.92+1G>C, NM_000518.5:c.251del, NM_000518.5:c.*113A>G, NM_000518.5:c.332T>C, Hb Tacoma NM_000518.5:c.93G>THeterozygousEl-Kalla and Mathews, 1997 Mutations identified...
613985.G.17.1United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>CHomozygousEl-Kalla and Mathews, 1993 41 transfusion-depen...
613985.G.17.2United Arab EmiratesUnknown Anemia... NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>CHeterozygousEl-Kalla and Mathews, 1993 Mutations identified...
613985.G.17.3United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+6T>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.93-21G>A, NM_000518.5:c.118C>T, NM_000518.5:c.135del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, NM_000518.5:c.47G>A, NM_000518.5:c.93-1G>C, NM_000518.5:c.114delHeterozygousEl-Kalla and Mathews, 1993 Mutations identified...
613985.G.18United Arab Emirates Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.47G>AQuaife et al. 1994 Mutations identified...
613985.G.19United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.316-3C>A, NG_000007.3:g.71609_72227delDe Leo et al. 1995 Mutations identified...
613985.G.21.1United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>CHomozygousBaysal, 2001 84 β-thalassaemia pa...
613985.G.21.2United Arab EmiratesUnknown Anemia... NM_000518.5:c.27dupHomozygousBaysal, 2001 10 β-thalassaemia pa...
613985.G.21.3United Arab EmiratesUnknown Anemia... NM_000518.5:c.118C>THomozygousBaysal, 2001 6 β-thalassaemia pat...
613985.G.21.4United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21_96delHomozygousBaysal, 2001 5 β-thalassaemia pat...
613985.G.21.5United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18delHomozygousBaysal, 2001 3 β-thalassaemia pat...
613985.G.21.6United Arab EmiratesUnknown Anemia... Hb Monroe NM_000518.5:c.92G>CHomozygousBaysal, 2001 3 β-thalassaemia pat...
613985.G.21.7United Arab EmiratesUnknown Anemia... Hb D-Punjab NM_000518.5:c.364G>CHomozygousBaysal, 2001 2 β-thalassaemia pat...
613985.G.21.8United Arab EmiratesUnknown Anemia... NM_000518.5:c.315+1G>AHomozygousBaysal, 2001 2 β-thalassaemia pat...
613985.G.22.1United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.92+1G>A, NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del, NM_000518.5:c.118C>T, NM_000518.5:c.315+1G>A, NM_000518.5:c.27dup, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.-138C>A, NM_000518.5:c.251delHomozygousBaysal, 2005 Homozygous β-thalass...
613985.G.22.2United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96delHeterozygousBaysal, 2005 10 patients with β-t...
613985.G.22.3United Arab EmiratesUnknown Anemia... NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>CHeterozygousBaysal, 2005 9 patients with β-th...
613985.G.22.4United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>CHeterozygousBaysal, 2005 9 patients with β-th...
613985.G.22.5United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21_96del, NM_000518.5:c.315+1G>AHeterozygousBaysal, 2005 4 patients with β-th...
613985.G.22.6United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21G>A, Hb Monroe NM_000518.5:c.92G>CHeterozygousBaysal, 2005 3 patients with β-th...
613985.G.22.7United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.315+1G>AHeterozygousBaysal, 2005 3 patients with β-th...
613985.G.22.8United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.27dupHeterozygousBaysal, 2005 3 patients with β-th...
613985.G.22.9United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, Hb D-Punjab NM_000518.5:c.364G>CHeterozygousBaysal, 2005 2 patients with β-th...
613985.G.22.10United Arab EmiratesUnknown Anemia... NM_000518.5:c.93-21_96del, NM_000518.5:c.251delHeterozygousBaysal, 2005 2 patients with β-th...
613985.G.22.11United Arab EmiratesUnknown Anemia... NM_000518.5:c.17_18del, NM_000518.5:c.118C>THeterozygousBaysal, 2005 2 patients with β-th...
613985.G.22.12United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.-138C>AHeterozygousBaysal, 2005 2 patients with β-th...
613985.G.22.13United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.*110_*114delHeterozygousBaysal, 2005 2 patients with β-th...
613985.G.22.14United Arab EmiratesUnknown Anemia... NM_000518.5:c.92+5G>C, NM_000518.5:c.332T>CHeterozygousBaysal, 2005 2 patients with β-th...

Other Reports

Lebanon

Zahed et al., 2002 conducted RFLP and sequence haplotype analysis to study the chromosomal background of 31 unrelated Lebanese subjects with IVS-I-110 (G>A) or codon 39 (C>T) beta-thalassemia mutations. Upon comparing the results with other studies from the Mediterranean, sequence haplotypes and RFLP haplotypes associated with IVS-I-110 allele were noted to be more diverse in Turkish samples compared to that of Lebanese. Zahed et al., 2002 indicated unicentric origin of IVS-I-110 (G>A) and hypothesised the probability of its introduction to Lebanon by migration or settlements from Turkey where it initially emerged. As codon 39 (C>T) was found to be rare in Lebanon, further insights regarding its origin and gene flow were not obtainable.

United Arab Emirates

White et al. (1986) analyzed 5000 subjects from three major Peninsular Arab States and determined the frequency of beta thalassemia in the United Arab Emirates to be 1.7%. [Note: data from other studies indicate that the actual frequency of beta-thalassemia in the UAE is higher than 8%; see below > Baysal, 2001].

Miller et al. (2003) carried out a cross-sectional community clinic-based capillary blood survey to produce a hematological profile of preschool national children of the United Arab Emirates. The sample included 1-5-year-old Emirati children attending a Primary Health Care Center in Al-Ain from April 2000 to October 2000. Those children with capillary hemoglobin (Hb) and mean corpuscular volume (MCV) values below predetermined cutoffs were offered venous blood hematological workup. A random sample of children with values above those cutoffs was also offered the same workup. In total, 496 children were surveyed. The mean Hb and adjusted MCV rose with increasing age but were not significantly different by gender. Two hundred and sixty-two children with Hb or MCV below the cutoffs and 50 children above the cutoffs were venous blood tested. The estimated abnormalities for this population of children were as follows: anemia 36%; iron deficiency anemia 10%; glucose-6-phosphate dehydrogenase (G6PD) deficiency 9%; sickle cell trait 5%; and beta thalassemia 9%.

In an update on the status of beta-thalassemia in the UAE population, Dr. Erol Baysal (personal communication, April 2006) indicated that 51 beta-thalassemia mutations are found in 372 beta-thalassemia patients, nationals of the UAE. About two-thirds of the patients were homozygotes, and half of these were homozygous for the Arabian Indian IVS-I-5 (G-C) mutation.

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