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 AnemiaNM_000518.5:c.17_18delHeterozygousAutosomal, RecessiveBaysal, 2005 Patient with sickle ...
603903.2United Arab EmiratesUnknown AnemiaNM_000518.5:c.118C>THeterozygousAutosomal, RecessiveBaysal, 2005 Patient with sickle ...
603903.3United Arab EmiratesUnknown AnemiaNM_000518.4:c.114G>AHeterozygousAutosomal, RecessiveBaysal, 2005 Patient with sickle ...
603903.4United Arab EmiratesUnknown AnemiaNM_000518.5:c.315+1G>AHeterozygousAutosomal, RecessiveBaysal, 2005 Patient with sickle ...
603903.5United Arab EmiratesUnknown AnemiaHb Monroe NM_000518.5:c.92G>CHeterozygousAutosomal, RecessiveBaysal, 2005 Patient with sickle ...
603903.8United Arab EmiratesFemale Avascular necrosis; AnemiaNM_000518.5:c.92+1G>AHomozygousAutosomal, RecessiveChoi et al. 2018
604131.9.1LebanonMaleYes Hypochromic microcytic anemia; Recurren...NG_059281.1:g.4962G>CHeterozygousAutosomal, RecessiveInati et al. 2013 Proband exhibited tw...
604131.9.2LebanonMaleYes Hypochromic microcytic anemia; Increase...NG_059281.1:g.4962G>CHeterozygousAutosomal, RecessiveInati et al. 2013 Brother of 604131.9....
604131.9.4LebanonFemaleYes Hypochromic anemiaNG_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; PallorNM_000518.5:c.92+5G>AHomozygousLapoumeroulie et al. 1986
613985.3AlgeriaFemale AnemiaNM_000518.5:c.316-8T>GHomozygousBeldjord et al. 1988
613985.6EgyptMale AnemiaNM_000518.5:c.316-3C>AWong et al. 1989 Patient presented wi...
613985.7Saudi ArabiaMaleYes Anemia; Fatigue; PallorNM_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; SplenomegalyNM_000518.5:c.*110_*114delHomozygousEl-Kalla and Mathews, 1997
613985.10.1IraqMaleYes Anemia; Decreased mean corpuscular volumeNM_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 volumeNM_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 FNM_000518.5:c.315+1G>AHeterozygousDeutsch et al. 1999 Niece of proband (pa...
613985.10.5IraqMaleYesNM_000518.5:c.315+1G>AHeterozygousDeutsch et al. 1999 Nephew of proband (p...
613985.11KuwaitMale Anemia; Persistence of hemoglobin FNM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.12KuwaitFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.13KuwaitFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 Patient from 'family...
613985.14KuwaitFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.15JordanFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.16JordanFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.17JordanMale Anemia; Persistence of hemoglobin FNM_000518.5:c.92+6T>CHomozygousAdekile et al. 2005 Patient from 'family...
613985.18IraqMale Anemia; Persistence of hemoglobin FNM_000518.5:c.315+1G>A, NM_000518.5:c.-78A>CHeterozygousAdekile et al. 2005 Patient from 'family...
613985.19JordanFemale Anemia; Persistence of hemoglobin FNM_000518.5:c.93-21G>AHeterozygousAdekile et al. 2005 Patient from 'family...
613985.21.1MoroccoFemale Abnormal hemoglobinHb Casablanca NM_000518.4:c.[197A>T;367T>C]Wajcman et al., 2000 Proband
613985.21.2MoroccoMaleHb Casablanca NM_000518.4:c.[197A>T;367T>C]Wajcman et al., 2000 Son of Proband, vari...
613985.22MoroccoFemale Asthenia; Anemia; Abnormal hemoglobinHb Tsukumi NM_000518.5:c.349C>TNorth et al. 2001
613985.24.1LebanonMaleYesYes Anemia; PallorNM_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 anemiaNM_000518.5:c.118C>THeterozygousGiordano et al. 1994 Father of 613985.27....
613985.27.3IraqMaleYesNo Hypochromic microcytic anemiaNM_000518.5:c.118C>THeterozygousGiordano et al. 1994 Brother of 613985.27...
613985.28United Arab EmiratesUnknown AnemiaNM_000518.5:c.251delHomozygousAutosomal, Recessive Patient with β-thala...
613985.29United Arab EmiratesUnknown AnemiaNM_000518.5:c.25_26delHomozygousAutosomal, Recessive Patient with β-thala...
613985.30United Arab EmiratesUnknown AnemiaNM_000518.5:c.25_26del, NM_000518.5:c.315+1G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.31United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21_96del, NM_000518.5:c.135delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.32United Arab EmiratesUnknown AnemiaNM_000518.5:c.17_18del, NM_000518.5:c.*110_*114delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.33United Arab EmiratesUnknown AnemiaNM_000518.5:c.118C>T, NM_000518.5:c.316-3C>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.34United Arab EmiratesUnknown AnemiaNM_000518.5:c.27dup, NM_000518.5:c.47G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.35United Arab EmiratesUnknown AnemiaNM_000518.5:c.27dup, NM_000518.5:c.112delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.36United Arab EmiratesUnknown AnemiaHb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.-151C>TCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.37United Arab EmiratesUnknown AnemiaNM_000518.5:c.17_18del, NM_000518.5:c.93-21G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.38United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.47G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.39United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.118C>TCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.40United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.135delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.41United Arab EmiratesUnknown AnemiaNM_000518.5:c.17_18del, NM_000518.5:c.92+5G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.42United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.251delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.43United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+6T>C, Hb D-Punjab NM_000518.5:c.364G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.44United Arab EmiratesUnknown AnemiaNM_000518.5:c.315+1G>A, NM_000518.5:c.251delCompound heterozygousAutosomal, RecessiveBaysal, 2005 Patient with β-thala...
613985.45.1United Arab EmiratesFemale Pallor; Irritability; Anemia; Decreased ...NM_000518.5:c.92+5G>CHomozygousAutosomal, RecessiveBelhoul et al. 2013 Proband
613985.46United Arab EmiratesUnknownNM_000518.5:c.315+1G>AHeterozygousAutosomal, DominantBertoli-Avella et al. 2021
141749.G.2.2AlgeriaFemaleYesYes Persistence of hemoglobin F; Increased H...NM_000518.5:c.118C>THeterozygousAutosomal, 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 AnemiaNM_000518.5:c.92+5G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 17 patients with sic...
603903.G.2.3United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21_96delHeterozygousAutosomal, RecessiveBaysal, 2005 4 patients with sick...
603903.G.2.5United Arab EmiratesUnknown AnemiaNM_000518.5:c.135delHeterozygousAutosomal, RecessiveBaysal, 2005 2 patients with sick...
603903.G.2.6United Arab EmiratesUnknown AnemiaNM_000518.5:c.251delHeterozygousAutosomal, RecessiveBaysal, 2005 2 patients with sick...
603903.G.3.1Arab; United Arab Emir...Unknown AnemiaNM_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, NM_000518.5:c.251del, NM_000518.4:c.114G>AAutosomal, RecessiveEl-Kalla and Baysal, 1998 Mutations identified...
613985.G.1.1LebanonUnknown Anemia; Fatigue; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_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; PallorNM_000518.5:c.20del, NM_000518.5:c.92+2T>CHeterozygousBouhass et al. 1990 Mutations identified...
613985.G.5BahrainUnknown Anemia; Fatigue; PallorNM_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; PallorNM_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 AnemiaNM_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 AnemiaNM_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 AnemiaNM_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 AnemiaNM_000518.5:c.93-21G>AAdekile et al. 1994 Mutations identified...
613985.G.9.3PalestineUnknown AnemiaNM_000518.5:c.118C>TAdekile et al. 1994 Mutations identified...
613985.G.9.4LebanonUnknown AnemiaNM_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 FNM_000518.5:c.315+1G>AHomozygousAdekile et al. 2005 2 patient from 'fami...
613985.G.11KuwaitMale Anemia; Persistence of hemoglobin FNM_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 FNM_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 FNM_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; PallorNM_000518.5:c.92+5G>CEl-Kalla and Mathews, 1993 15 patients with tra...
613985.G.15.1OmanUnknown Anemia; Fatigue; PallorNM_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; PallorHb Knossos NM_000518.5:c.82G>TEl-Kalla and Mathews, 1997 Mutation identified ...
613985.G.16United Arab EmiratesUnknown AnemiaNM_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>CHeterozygousAutosomal, RecessiveEl-Kalla and Mathews, 1997 Mutations identified...
613985.G.17.1United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>CHomozygousAutosomal, RecessiveEl-Kalla and Mathews, 1993 41 transfusion-depen...
613985.G.17.2United Arab EmiratesUnknown AnemiaNM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>CHeterozygousAutosomal, RecessiveEl-Kalla and Mathews, 1993 Mutations identified...
613985.G.17.3United Arab EmiratesUnknown AnemiaNM_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.114delHeterozygousAutosomal, RecessiveEl-Kalla and Mathews, 1993 Mutations identified...
613985.G.18United Arab Emirates AnemiaNM_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>AAutosomal, RecessiveQuaife et al. 1994 Mutations identified...
613985.G.19United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.316-3C>A, NG_000007.3:g.71609_72227delAutosomal, RecessiveDe Leo et al. 1995 Mutations identified...
613985.G.21.1United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>CHomozygous 84 β-thalassaemia pa...
613985.G.21.2United Arab EmiratesUnknown AnemiaNM_000518.5:c.27dupHomozygous 10 β-thalassaemia pa...
613985.G.21.3United Arab EmiratesUnknown AnemiaNM_000518.5:c.118C>THomozygous 6 β-thalassaemia pat...
613985.G.21.4United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21_96delHomozygous 5 β-thalassaemia pat...
613985.G.21.5United Arab EmiratesUnknown AnemiaNM_000518.5:c.17_18delHomozygous 3 β-thalassaemia pat...
613985.G.21.6United Arab EmiratesUnknown AnemiaHb Monroe NM_000518.5:c.92G>CHomozygous 3 β-thalassaemia pat...
613985.G.21.7United Arab EmiratesUnknown AnemiaHb D-Punjab NM_000518.5:c.364G>CHomozygous 2 β-thalassaemia pat...
613985.G.21.8United Arab EmiratesUnknown AnemiaNM_000518.5:c.315+1G>AHomozygous 2 β-thalassaemia pat...
613985.G.22.1United Arab EmiratesUnknown AnemiaNM_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.251delHomozygousAutosomal, RecessiveBaysal, 2005 Homozygous β-thalass...
613985.G.22.2United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96delCompound heterozygousAutosomal, RecessiveBaysal, 2005 10 patients with β-t...
613985.G.22.3United Arab EmiratesUnknown AnemiaNM_000518.5:c.25_26del, NM_000518.5:c.92+5G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 9 patients with β-th...
613985.G.22.4United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 9 patients with β-th...
613985.G.22.5United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21_96del, NM_000518.5:c.315+1G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 4 patients with β-th...
613985.G.22.6United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21G>A, Hb Monroe NM_000518.5:c.92G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 3 patients with β-th...
613985.G.22.7United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.315+1G>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 3 patients with β-th...
613985.G.22.8United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.27dupCompound heterozygousAutosomal, RecessiveBaysal, 2005 3 patients with β-th...
613985.G.22.9United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, Hb D-Punjab NM_000518.5:c.364G>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.22.10United Arab EmiratesUnknown AnemiaNM_000518.5:c.93-21_96del, NM_000518.5:c.251delCompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.22.11United Arab EmiratesUnknown AnemiaNM_000518.5:c.17_18del, NM_000518.5:c.118C>TCompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.22.12United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.-138C>ACompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.22.13United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.*110_*114delCompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.22.14United Arab EmiratesUnknown AnemiaNM_000518.5:c.92+5G>C, NM_000518.5:c.332T>CCompound heterozygousAutosomal, RecessiveBaysal, 2005 2 patients with β-th...
613985.G.23.1United Arab EmiratesUnknownNM_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, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.112del, NM_000518.5:c.-138C>A, NM_000518.5:c.47G>A, NM_000518.5:c.316-3C>A, NM_000518.5:c.-151C>T, Hb Knossos NM_000518.5:c.82G>T, NM_000518.5:c.92+1G>C, NM_000518.5:c.251del, NM_000518.5:c.*113A>G, NM_000518.5:c.332T>C, NM_000518.4:c.114G>A, Hb D-Punjab NM_000518.5:c.364G>C, NM_000518.4:c.79G>A, NM_000518.4:c.92+1G>T, NC_000011.10:g.5153222_5238138delinsTATTTAutosomal, RecessiveBaysal. 2011; Baysal 2017 412 Emirati patients...

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.In total, 496 children were surveyed, and prevalence of beta thalassemia was found to be 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.

Salama and Saleh (2016) undertook a retrospective survey of all couples who were screened under the pre-marital screening programme in the Emirate of Ras Al Khaimah. More than 2/3rds of the screened individuals were Emiratis. Of the 17,286 screened individuals, 513 (2.88%) were found to be positibe for beta thalassemia trait and 18 (0.1%) were positive for the disease.

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