603903.1 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del | Heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with sickle ... |
603903.2 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.118C>T | Heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with sickle ... |
603903.3 | United Arab Emirates | Unknown | | | Anemia | NM_000518.4:c.114G>A | Heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with sickle ... |
603903.4 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.315+1G>A | Heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with sickle ... |
603903.5 | United Arab Emirates | Unknown | | | Anemia | Hb Monroe NM_000518.5:c.92G>C | Heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with sickle ... |
603903.8 | United Arab Emirates | Female | | | Avascular necrosis; Anemia | NM_000518.5:c.92+1G>A | Homozygous | Autosomal, Recessive | Choi et al. 2018 | |
604131.9.1 | Lebanon | Male | Yes | | Hypochromic microcytic anemia; Recurren... | NG_059281.1:g.4962G>C | Heterozygous | Autosomal, Recessive | Inati et al. 2013 | Proband exhibited tw... |
604131.9.2 | Lebanon | Male | Yes | | Hypochromic microcytic anemia; Increase... | NG_059281.1:g.4962G>C | Heterozygous | Autosomal, Recessive | Inati et al. 2013 | Brother of 604131.9.... |
604131.9.4 | Lebanon | Female | Yes | | Hypochromic anemia | NG_059281.1:g.4962G>C | Heterozygous | Autosomal, Recessive | Inati et al. 2013 | Mother of 604131.9.1... |
613985.1 | Lebanon | Male | No | | Anemia; Skin ulcer; Arterial stenosis; M... | NM_000518.5:c.93-21G>A | Homozygous | | El Rassi et al, 2009 | Beta-thalassemia int... |
613985.2 | Algeria | Unknown | Yes | Yes | Anemia; Fatigue; Pallor | NM_000518.5:c.92+5G>A | Homozygous | | Lapoumeroulie et al. 1986 | |
613985.3 | Algeria | Female | | | Anemia | NM_000518.5:c.316-8T>G | Homozygous | | Beldjord et al. 1988 | |
613985.6 | Egypt | Male | | | Anemia | NM_000518.5:c.316-3C>A | | | Wong et al. 1989 | Patient presented wi... |
613985.7 | Saudi Arabia | Male | Yes | | Anemia; Fatigue; Pallor | NM_000518.5:c.93-21G>A, NM_000518.5:c.93-3T>G | | | Wong et al. 1989 | β+thalassaemia major... |
613985.8 | Egypt | Male | | | Decreased mean corpuscular volume; Hypoc... | NM_000518.5:c.92+6T>C, NM_000518.5:c.93-1G>A | Heterozygous | | Deidda et al. 1990 | |
613985.9 | Egypt | Male | | | Anemia; Hepatomegaly; Splenomegaly | NM_000518.5:c.*110_*114del | Homozygous | | El-Kalla and Mathews, 1997 | |
613985.10.1 | Iraq | Male | Yes | | Anemia; Decreased mean corpuscular volume | NM_000518.5:c.315+1G>A, Hb Iraq-Halabja NM_000518.5:c.32C>T | Heterozygous | | Deutsch et al. 1999 | Proband (patient #34... |
613985.10.2 | Iraq | Male | Yes | | Hemolytic anemia; Persistence of hemoglo... | NM_000518.5:c.315+1G>A | Heterozygous | | Deutsch et al. 1999 | Son of Proband (pati... |
613985.10.3 | Iraq | Male | Yes | | Anemia; Decreased mean corpuscular volume | NM_000518.5:c.315+1G>A, Hb Iraq-Halabja NM_000518.5:c.32C>T | Heterozygous | | Deutsch et al. 1999 | Brother of proband (... |
613985.10.4 | Iraq | Female | Yes | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A | Heterozygous | | Deutsch et al. 1999 | Niece of proband (pa... |
613985.10.5 | Iraq | Male | Yes | | | NM_000518.5:c.315+1G>A | Heterozygous | | Deutsch et al. 1999 | Nephew of proband (p... |
613985.11 | Kuwait | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.12 | Kuwait | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.13 | Kuwait | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.14 | Kuwait | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.92+6T>C | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.15 | Jordan | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.92+6T>C | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.16 | Jordan | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.92+6T>C | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.17 | Jordan | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.92+6T>C | Homozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.18 | Iraq | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A, NM_000518.5:c.-78A>C | Heterozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.19 | Jordan | Female | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.93-21G>A | Heterozygous | | Adekile et al. 2005 | Patient from 'family... |
613985.21.1 | Morocco | Female | | | Abnormal hemoglobin | Hb Casablanca NM_000518.4:c.[197A>T;367T>C] | | | Wajcman et al., 2000 | Proband |
613985.21.2 | Morocco | Male | | | | Hb Casablanca NM_000518.4:c.[197A>T;367T>C] | | | Wajcman et al., 2000 | Son of Proband, vari... |
613985.22 | Morocco | Female | | | Asthenia; Anemia; Abnormal hemoglobin | Hb Tsukumi NM_000518.5:c.349C>T | | | North et al. 2001 | |
613985.24.1 | Lebanon | Male | Yes | Yes | Anemia; Pallor | NM_000518.5:c.93-21G>A, NM_000518.5:c.27dup | Heterozygous | | Zalloua et al. 2003 | Proband |
613985.27.1 | Iraq | Female | Yes | No | Hypochromic microcytic anemia; Graves di... | NM_000518.5:c.118C>T | Heterozygous | | Giordano et al. 1994 | Propositus of an Ira... |
613985.27.2 | Iraq | Male | Yes | No | Hypochromic microcytic anemia | NM_000518.5:c.118C>T | Heterozygous | | Giordano et al. 1994 | Father of 613985.27.... |
613985.27.3 | Iraq | Male | Yes | No | Hypochromic microcytic anemia | NM_000518.5:c.118C>T | Heterozygous | | Giordano et al. 1994 | Brother of 613985.27... |
613985.28 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.251del | Homozygous | Autosomal, Recessive | | Patient with β-thala... |
613985.29 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.25_26del | Homozygous | Autosomal, Recessive | | Patient with β-thala... |
613985.30 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.25_26del, NM_000518.5:c.315+1G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.31 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21_96del, NM_000518.5:c.135del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.32 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del, NM_000518.5:c.*110_*114del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.33 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.118C>T, NM_000518.5:c.316-3C>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.34 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.27dup, NM_000518.5:c.47G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.35 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.27dup, NM_000518.5:c.112del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.36 | United Arab Emirates | Unknown | | | Anemia | Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.-151C>T | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.37 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del, NM_000518.5:c.93-21G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.38 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.47G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.39 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.118C>T | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.40 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.135del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.41 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del, NM_000518.5:c.92+5G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.42 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.251del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.43 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+6T>C, Hb D-Punjab NM_000518.5:c.364G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.44 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.315+1G>A, NM_000518.5:c.251del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | Patient with β-thala... |
613985.45.1 | United Arab Emirates | Female | | | Pallor; Irritability; Anemia; Decreased ... | NM_000518.5:c.92+5G>C | Homozygous | Autosomal, Recessive | Belhoul et al. 2013 | Proband |
613985.46 | United Arab Emirates | Unknown | | | | NM_000518.5:c.315+1G>A | Heterozygous | Autosomal, Dominant | Bertoli-Avella et al. 2021 | |
141749.G.2.2 | Algeria | Female | Yes | Yes | Persistence of hemoglobin F; Increased H... | NM_000518.5:c.118C>T | Heterozygous | Autosomal, Dominant | Zertal-Zidani et al. 1999 | 4 females belonging ... |
141749.G.2.3 | Algeria | | Yes | Yes | Increased HbA2 hemoglobin; Decreased mea... | NM_000518.5:c.118C>T | Heterozygous | Autosomal, Dominant | Zertal-Zidani et al. 1999 | 2 males and 1 female... |
603903.G.2.2 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 17 patients with sic... |
603903.G.2.3 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21_96del | Heterozygous | Autosomal, Recessive | Baysal, 2005 | 4 patients with sick... |
603903.G.2.5 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.135del | Heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with sick... |
603903.G.2.6 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.251del | Heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with sick... |
603903.G.3.1 | Arab; 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, NM_000518.5:c.251del, NM_000518.4:c.114G>A | | Autosomal, Recessive | El-Kalla and Baysal, 1998 | Mutations identified... |
613985.G.1.1 | Lebanon | Unknown | | | 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>A | | | Zahed et al, 1997 | Unknown number of pa... |
613985.G.1.2 | Lebanon | Unknown | | | 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>G | | | Zahed et al, 1997 | Unknown number of pa... |
613985.G.1.3 | Lebanon | Unknown | | | Anemia; Fatigue; Pallor | NM_000518.5:c.90C>T, NM_000518.5:c.92G>A | | | Zahed et al, 1997 | Unknown number of pa... |
613985.G.2.1 | Saudi Arabia | Unknown | | | 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.27dup | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.2.2 | Jordan | Unknown | | | 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.27dup | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.2.3 | Egypt | Unknown | | | 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 | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.2.4 | Syria | Unknown | | | 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>G | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.2.5 | Lebanon | Unknown | | | 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>G | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.2.6 | Yemen | Unknown | | | Anemia; Fatigue; Pallor | NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>A | | | el-Hazmi et al, 1995 | Beta-thalassemia mut... |
613985.G.3.1 | Lebanon | Unknown | | No | 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>G | Homozygous | | Makhoul et al. 2005 | Patients with beta-p... |
613985.G.3.2 | Lebanon | Unknown | | | 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.112del | Heterozygous, Homozygous | | Makhoul et al. 2005 | Patients with beta-z... |
613985.G.4 | Algeria | Unknown | | | Anemia; Fatigue; Pallor | NM_000518.5:c.20del, NM_000518.5:c.92+2T>C | Heterozygous | | Bouhass et al. 1990 | Mutations identified... |
613985.G.5 | Bahrain | Unknown | | | 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_129del | | | Jassim et al. 1998 | Mutations identified... |
613985.G.6 | Comoros | Unknown | | | 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>C | | | Badens et al. 2000 | Mutations identified... |
613985.G.7 | Iraq | Unknown | | | 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_74del | | | Al-Allawi et al. 2006 | Mutations identified... |
613985.G.8 | Iraq | Unknown | | | 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>A | | | Jalal et al. 2010 | Mutations identified... |
613985.G.9.1 | Kuwait | Unknown | | | 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.112del | | | Adekile et al. 1994 | Mutations identified... |
613985.G.9.2 | Egypt | Unknown | | | Anemia | NM_000518.5:c.93-21G>A | | | Adekile et al. 1994 | Mutations identified... |
613985.G.9.3 | Palestine | Unknown | | | Anemia | NM_000518.5:c.118C>T | | | Adekile et al. 1994 | Mutations identified... |
613985.G.9.4 | Lebanon | Unknown | | | Anemia | NM_000518.5:c.93-21G>A, NM_000518.5:c.315+1G>A | | | Adekile et al. 1994 | Mutations identified... |
613985.G.10 | Kuwait | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.315+1G>A | Homozygous | | Adekile et al. 2005 | 2 patient from 'fami... |
613985.G.11 | Kuwait | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.25_26del, NM_000518.5:c.-151C>T | Heterozygous | | Adekile et al. 2005 | 3 patient from 'fami... |
613985.G.12 | Kuwait | | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.25_26del, NM_000518.5:c.315+1G>A | Heterozygous | | Adekile et al. 2005 | 2 patient from 'fami... |
613985.G.13 | Kuwait | Male | | | Anemia; Persistence of hemoglobin F | NM_000518.5:c.92+6T>C, Hb Malay NM_000518.5:c.59A>G | Heterozygous | | Adekile et al. 2005 | 2 patient from 'fami... |
613985.G.14 | Oman | Unknown | | | Anemia; Fatigue; Pallor | NM_000518.5:c.92+5G>C | | | El-Kalla and Mathews, 1993 | 15 patients with tra... |
613985.G.15.1 | Oman | Unknown | | | 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>C | | | El-Kalla and Mathews, 1997 | Mutations identified... |
613985.G.15.2 | Palestine | Unknown | | | Anemia; Fatigue; Pallor | Hb Knossos NM_000518.5:c.82G>T | | | El-Kalla and Mathews, 1997 | Mutation identified ... |
613985.G.16 | United Arab Emirates | Unknown | | | 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 | Heterozygous | Autosomal, Recessive | El-Kalla and Mathews, 1997 | Mutations identified... |
613985.G.17.1 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C | Homozygous | Autosomal, Recessive | El-Kalla and Mathews, 1993 | 41 transfusion-depen... |
613985.G.17.2 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C | Heterozygous | Autosomal, Recessive | El-Kalla and Mathews, 1993 | Mutations identified... |
613985.G.17.3 | United Arab Emirates | Unknown | | | 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.114del | Heterozygous | Autosomal, Recessive | El-Kalla and Mathews, 1993 | Mutations identified... |
613985.G.18 | United 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>A | | Autosomal, Recessive | Quaife et al. 1994 | Mutations identified... |
613985.G.19 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.316-3C>A, NG_000007.3:g.71609_72227del | | Autosomal, Recessive | De Leo et al. 1995 | Mutations identified... |
613985.G.21.1 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C | Homozygous | | | 84 β-thalassaemia pa... |
613985.G.21.2 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.27dup | Homozygous | | | 10 β-thalassaemia pa... |
613985.G.21.3 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.118C>T | Homozygous | | | 6 β-thalassaemia pat... |
613985.G.21.4 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21_96del | Homozygous | | | 5 β-thalassaemia pat... |
613985.G.21.5 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del | Homozygous | | | 3 β-thalassaemia pat... |
613985.G.21.6 | United Arab Emirates | Unknown | | | Anemia | Hb Monroe NM_000518.5:c.92G>C | Homozygous | | | 3 β-thalassaemia pat... |
613985.G.21.7 | United Arab Emirates | Unknown | | | Anemia | Hb D-Punjab NM_000518.5:c.364G>C | Homozygous | | | 2 β-thalassaemia pat... |
613985.G.21.8 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.315+1G>A | Homozygous | | | 2 β-thalassaemia pat... |
613985.G.22.1 | United Arab Emirates | Unknown | | | 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.251del | Homozygous | Autosomal, Recessive | Baysal, 2005 | Homozygous β-thalass... |
613985.G.22.2 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.93-21_96del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 10 patients with β-t... |
613985.G.22.3 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.25_26del, NM_000518.5:c.92+5G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 9 patients with β-th... |
613985.G.22.4 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.92+6T>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 9 patients with β-th... |
613985.G.22.5 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21_96del, NM_000518.5:c.315+1G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 4 patients with β-th... |
613985.G.22.6 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21G>A, Hb Monroe NM_000518.5:c.92G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 3 patients with β-th... |
613985.G.22.7 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.315+1G>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 3 patients with β-th... |
613985.G.22.8 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.27dup | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 3 patients with β-th... |
613985.G.22.9 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, Hb D-Punjab NM_000518.5:c.364G>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.22.10 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.93-21_96del, NM_000518.5:c.251del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.22.11 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.17_18del, NM_000518.5:c.118C>T | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.22.12 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.-138C>A | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.22.13 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.*110_*114del | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.22.14 | United Arab Emirates | Unknown | | | Anemia | NM_000518.5:c.92+5G>C, NM_000518.5:c.332T>C | Compound heterozygous | Autosomal, Recessive | Baysal, 2005 | 2 patients with β-th... |
613985.G.23.1 | United Arab Emirates | Unknown | | | | 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, 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_5238138delinsTATTT | | Autosomal, Recessive | Baysal. 2011; Baysal 2017 | 412 Emirati patients... |
613985.G.24.1 | Lebanon | Unknown | | | Anemia | NM_000518.5:c.-138C>T, NM_000518.5:c.-80T>A, NM_000518.5:c.17_18del, NM_000518.5:c.25_26del, NM_000518.5:c.90C>T, 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, Hb Monroe NM_000518.5:c.92G>C, NM_000518.5:c.112del, NM_000518.5:c.316-3C>A, NM_000518.5:c.251del, NM_000518.5:c.30dup, NM_000518.5:c.46del, NM_000518.5:c.-136C>G, NM_000518.5:c.22G>T, NM_000518.5:c.79G>T | | | Farra et al. 2021 | Mutations identified... |
613985.G.24.2 | Iraq | Unknown | | | Anemia | NM_000518.5:c.25_26del, NM_000518.5:c.90C>T, NM_000518.5:c.92+1G>A, 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.315+1G>A, NM_000518.5:c.27dup, NM_000518.5:c.126_129del, NM_000518.5:c.316-3C>A, NM_000518.5:c.-78A>C, NM_000518.5:c.-29G>A | | | Farra et al. 2021 | Mutation identified ... |
613985.G.24.3 | Syria | Unknown | | | 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+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 | | | Farra et al. 2021 | Mutation identified ... |