-
2
-
-
0036190154
-
HbVar. A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
-
DOI 10.1002/humu.10044
-
Hardison RC, Chui DH, Giardine B, et al. HbVar: a relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002;19(3):225-233 (http://globin. csu.pse.edu). (Pubitemid 34195183)
-
(2002)
Human Mutation
, vol.19
, Issue.3
, pp. 225-233
-
-
Hardison, R.C.1
Chui, D.H.K.2
Giardine, B.3
Riemer, C.4
Patrinos, G.P.5
Anagnou, N.6
Miller, W.7
Wajcman, H.8
-
3
-
-
0023359337
-
α-Thalassemia in Saudi Arabia: Deletion pattern
-
El-Hazmi MA. α-Thalassemia in Saudi Arabia: deletion pattern. Hum Genet. 1987;76(2):196-198.
-
(1987)
Hum Genet
, vol.76
, Issue.2
, pp. 196-198
-
-
El-Hazmi, M.A.1
-
4
-
-
0033760147
-
Thalassemia syndromes in Saudi Arabia: Meta-analysis of local studies
-
Al-Awamy BH. Thalassemia syndromes in Saudi Arabia: meta-analysis of local studies. Saudi Med J. 2000;21(1):8-17.
-
(2000)
Saudi Med J
, vol.21
, Issue.1
, pp. 8-17
-
-
Al-Awamy, B.H.1
-
5
-
-
0032452648
-
Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenase deficiency and thalassemia in Qatif and Al Hasa
-
Nasserullah Z, Al Jame A, Abu Srair H, et al. Neonatal screening for sickle cell disease, glucose-6-phosphate dehydrogenises deficiency and α thalassemia in Qatif and Al Ahsa. Ann Saudi Med. 1998; 18(4):289-292. (Pubitemid 29319908)
-
(1998)
Annals of Saudi Medicine
, vol.18
, Issue.4
, pp. 289-292
-
-
Nasserullah, Z.1
Al Jame, A.2
Abu Srair, H.3
Al Qatari, G.4
Al Naim, S.5
Al Aqib, A.6
Mokhtar, M.7
-
6
-
-
0346270723
-
Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency
-
Nasserullah Z, Alshammari A, Al Abbas M, et al. Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. Ann Saudi Med. 2003;23(6):354-357. (Pubitemid 37527004)
-
(2003)
Annals of Saudi Medicine
, vol.23
, Issue.6
, pp. 354-357
-
-
Naserullah, Z.1
Alshammari, A.2
Al Abbas, M.3
Abu-Khamsseen, Y.4
Qadri, M.5
Al Jafer, S.6
Al Wabel, M.7
-
7
-
-
67650022096
-
Molecular spectrum of α-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia
-
Hellani A, Fadel E, El-Sadadi S, et al. Molecular spectrum of α-thalassemia mutations in microcytic hypochromic anemia patients from Saudi Arabia. Genet Test Mol Biomarkers. 2009;13(2):219-221.
-
(2009)
Genet Test Mol Biomarkers
, vol.13
, Issue.2
, pp. 219-221
-
-
Hellani, A.1
Fadel, E.2
El-Sadadi, S.3
-
8
-
-
0021890890
-
Hemoglobin Handsworth or α218(A16) Gly!Argβ2 in A Saudi Newborn
-
Al-Awamy BH, Niazi GA, Naeem MA, Wilson JB, Huisman THJ. Hemoglobin Handsworth or α218(A16) Gly!Argβ2 in a Saudi newborn. Hemoglobin. 1985;9(2):183-186.
-
(1985)
Hemoglobin
, vol.9
, Issue.2
, pp. 183-186
-
-
Al-Awamy, B.H.1
Niazi, G.A.2
Naeem, M.A.3
Wilson, J.B.4
Huisman, T.H.J.5
-
9
-
-
0027212799
-
Silent carrier thalassaemia due to a severe globin mutation interacting with other genetic elements
-
Rund D, Filon D, Oppenheim A, Abramov A. Silent carrier β-thalassaemia due to a severe β-globin mutation interacting with other genetic elements. Eur J Pediatr. 1993;152(7):574-576. (Pubitemid 23179181)
-
(1993)
European Journal of Pediatrics
, vol.152
, Issue.7
, pp. 574-576
-
-
Rund, D.1
Filon, D.2
Oppenheim, A.3
Abramov, A.4
-
10
-
-
0028247096
-
Severe thalassaemia intermedia caused by interaction of homozygosity for globin gene triplication with heterozygosity for thalassaemia
-
Oron V, Filon D, Oppenheim A, Rund D. Severe thalassemia intermedia caused by interaction of homozygosity for α-globin gene triplication with heterozygosity for β0-thalassaemia. Br J Haematol. 1994;86(2):377-379. (Pubitemid 24199005)
-
(1994)
British Journal of Haematology
, vol.86
, Issue.2
, pp. 377-379
-
-
Oron, V.1
Filon, D.2
Oppenheim, A.3
Rund, D.4
-
12
-
-
79952924677
-
Spectrum of β-thalassemia mutations in the Eastern Province of Saudi Arabia
-
Al-Sultan A, Phanasgoankar S, Suliman A, Al-Baqushi M, Nasrullah Z, Al-Ali A. Spectrum of β-thalassemia mutations in the Eastern Province of Saudi Arabia. Hemoglobin. 2011;35(2):125-134.
-
(2011)
Hemoglobin
, vol.35
, Issue.2
, pp. 125-134
-
-
Al-Sultan, A.1
Phanasgoankar, S.2
Suliman, A.3
Al-Baqushi, M.4
Nasrullah, Z.5
Al-Ali, A.6
-
13
-
-
0033983971
-
Single-tube multiplex-PCR screen for common deletional determinants of thalassemia
-
Chong SS, Boehme CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360-362. (Pubitemid 30017265)
-
(2000)
Blood
, vol.95
, Issue.1
, pp. 360-362
-
-
Chong, S.S.1
Boehm, C.D.2
Higgs, D.R.3
Cutting, G.R.4
-
14
-
-
0001311252
-
Hemoglobin H disease in the eastern region of Saudi Arabia
-
Qadri MI, Islam SA. Hemoglobin H disease in the eastern region of Saudi Arabia. Saudi Med J. 2000; 21(7):666-671.
-
(2000)
Saudi Med J
, vol.21
, Issue.7
, pp. 666-671
-
-
Qadri, M.I.1
Islam, S.A.2
-
15
-
-
0019918654
-
The interaction of α thalassaemia and heterozygous β thalassaemia
-
Kanavakis E, Wainscot JS, Wood WG, et al. The interaction of α thalassaemia and heterozygous β thalassaemia. Br J Haematol. 1982;52(2):465-473.
-
(1982)
Br J Haematol
, vol.52
, Issue.2
, pp. 465-473
-
-
Kanavakis, E.1
Wainscot, J.S.2
Wood, W.G.3
-
16
-
-
77950464204
-
Extended molecular spectrum of β-and α-thalassemia in Oman
-
Hassan SM, Nishat H, Al-Lawatiya FJ, et al. Extended molecular spectrum of β-and α-thalassemia in Oman. Hemoglobin. 2010;34(2):127-134.
-
(2010)
Hemoglobin
, vol.34
, Issue.2
, pp. 127-134
-
-
Hassan, S.M.1
Nishat, H.2
Al-Lawatiya, F.J.3
-
17
-
-
77957855348
-
High prevalence of α-and β-thalassemia in Kadazandusuns in East Malaysia: Challenges in providing effective health care for an indigenous group
-
doi:pii 706872 Epub 2010 Sep 5
-
Tan JAMA, Lee PC, Wee YC, et al. High prevalence of α-and β-thalassemia in Kadazandusuns in East Malaysia: challenges in providing effective health care for an indigenous group. J Biomed Biotechnol. 2010;2010. doi:pii: 706872. Epub 2010 Sep 5.
-
(2010)
J Biomed Biotechnol
, vol.2010
-
-
Tan, JaM.A.1
Lee, P.C.2
Wee, Y.C.3
-
18
-
-
0030905118
-
Prevalence and genotypes of and thalassemia carriers in Hong Kong - Implications for population screening
-
DOI 10.1056/NEJM199705013361805
-
Lau YL, Chan L, Chan YYA, et al. Prevalence and genotypes of α and β thalassemia carriers in Hong Kong-implementation for population screening. New Engl J Med. 1997;336(18):1298-1301. (Pubitemid 27187783)
-
(1997)
New England Journal of Medicine
, vol.336
, Issue.18
, pp. 1298-1301
-
-
Lau, Y.-L.1
Chan, L.-C.2
Chan, Y.-Y.A.3
Ha, S.-Y.4
Yeung, C.-Y.5
Waye, J.S.6
Chui, D.H.K.7
-
19
-
-
2442556148
-
The prevalence and spectrum of thalassaemia in Guangdong Province: Implications for the future health burden and population screening
-
DOI 10.1136/jcp.2003.014456
-
Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of α and β thalassemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004; 57(5):517-522. (Pubitemid 38621798)
-
(2004)
Journal of Clinical Pathology
, vol.57
, Issue.5
, pp. 517-522
-
-
Xu, X.M.1
Zhou, Y.Q.2
Luo, G.X.3
Liao, C.4
Zhou, M.5
Chen, P.Y.6
Lu, J.P.7
Jia, S.Q.8
Xiao, G.F.9
Shen, X.10
Li, J.11
Chen, H.P.12
Xia, Y.Y.13
Wen, Y.X.14
Mo, Q.H.15
Li, W.D.16
Li, Y.Y.17
Zhuo, L.W.18
Wang, Z.Q.19
Chen, Y.J.20
Qin, C.H.21
Zhong, M.22
more..
-
20
-
-
33744463110
-
Detection of thalassemia in thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening
-
Li D., Liao C, Li J, et al. Detection of α-thalassemia in β-thalassemia carriers and prevention of Hb Bart's hydrops fetalis through prenatal screening. Haematologica. 2006;91(5):649-651. (Pubitemid 43799461)
-
(2006)
Haematologica
, vol.91
, Issue.5
, pp. 649-651
-
-
Li, D.1
Liao, C.2
Li, J.3
Xie, X.4
Huang, Y.5
Zhong, H.6
-
21
-
-
77954836650
-
Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant Hb Olympia [β20(B2)Val!Met] with β-and α-thalassemia mutations: First case in the literature
-
Kalotychou V, Tzanetea R, Konstantopoulos K, Papassotiriou I, Rombos I. Erythrocytosis due to a combination of the high oxygen affinity hemoglobin variant, Hb Olympia [β20(B2)Val!Met] with β-and α-thalassemia mutations: first case in the literature. Hemoglobin. 2010;34(4):383-388.
-
(2010)
Hemoglobin
, vol.34
, Issue.4
, pp. 383-388
-
-
Kalotychou, V.1
Tzanetea, R.2
Konstantopoulos, K.3
Papassotiriou, I.4
Rombos, I.5
-
22
-
-
33645308826
-
Prevalence of-α3.7 and αααanti3.7 alleles in sickle cell trait and β-thalassemia patients in Mexico
-
Nava MP, Ibarra B, Magaña MT, Chavez ML, Perea FJ. Prevalence of-α3.7 and αααanti3.7 alleles in sickle cell trait and β-thalassemia patients in Mexico. Blood Cells Mol Dis. 2006;36(2):255-258.
-
(2006)
Blood Cells Mol Dis
, vol.36
, Issue.2
, pp. 255-258
-
-
Nava, M.P.1
Ibarra, B.2
Magaña, M.T.3
Chavez, M.L.4
Perea, F.J.5
-
23
-
-
77149150594
-
The coinheritance of β-and α-thalassemia: A review of one patient and her family
-
Mast KJ, Hammond S, Qualman SJ, Kahwash SB. The coinheritance of β-and α-thalassemia: a review of one patient and her family. Lab Hematol. 2009;15(3):30-33.
-
(2009)
Lab Hematol
, vol.15
, Issue.3
, pp. 30-33
-
-
Mast, K.J.1
Hammond, S.2
Qualman, S.J.3
Kahwash, S.B.4
-
24
-
-
84872148166
-
Prevalence of thalassemia disorders and hemoglobinopathies in Jeddah, Western Saudi Arabia
-
Al-Jaouni SK. Prevalence of thalassemia disorders and hemoglobinopathies in Jeddah, Western Saudi Arabia. J Appl Hematol. 2010;1(1):43-46.
-
(2010)
J Appl Hematol
, vol.1
, Issue.1
, pp. 43-46
-
-
Al-Jaouni, S.K.1
-
26
-
-
0022214441
-
The diagnostic value of globin biosynthesis in thalassaemias
-
Sejeny S, Ganeshaguru K, Samuel A, et al. The diagnosis value of globin biosynthesis in thalassemia. Saudi Med J. 1985;6(7):546-553. (Pubitemid 16254235)
-
(1985)
Saudi Medical Journal
, vol.6
, Issue.6
, pp. 546-553
-
-
Sejeny, S.A.1
Ganeshaguru, K.2
Samuel, A.P.W.3
-
27
-
-
0041456313
-
Haemoglobinopathies a review
-
Niazi G, Rowland H. Haemoglobinopathies-a review. Saudi Med J. 1989;10(5):340-352.
-
(1989)
Saudi Med J
, vol.10
, Issue.5
, pp. 340-352
-
-
Niazi, G.1
Rowland, H.2
-
28
-
-
0023636086
-
Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: The present status
-
El-Hami MA. Haemoglobinopathies, thalassaemias and enzymopathies in Saudi Arabia: the present status. Acta Haematol. 1987; 78(2-3):130-134.
-
(1987)
Acta Haematol
, vol.78
, Issue.2-3
, pp. 130-134
-
-
El-Hami, M.A.1
-
29
-
-
0035741203
-
Hemoglobin H disease in the Al-Qatif region of Saudi Arabia
-
Ankra-Badu GA, Al-Jama A, Al Vadim Y. Hemoglobin H disease in the Al-Qatif region of Saudi Arabia. Ann Saudi Med. 2012;21(5-6):308-311.
-
(2012)
Ann Saudi Med
, vol.21
, Issue.5-6
, pp. 308-311
-
-
Ankra-Badu, G.A.1
Al-Jama, A.2
Al Vadim, Y.3
-
30
-
-
34250706276
-
Premarital screening for thalassemia and sickle cell disease in Saudi Arabia
-
DOI 10.1097/GIM.0b013e318065a9e8, PII 0012581720070600000006
-
Al-Hamdan NA, Al-Mazrou Y, Al-Swaidi F, Choudhry AJ. Premarital screening for thalassemia and sickle cell disease in Saudi Arabia. Genet Med. 2007;9(6):372-377. (Pubitemid 46956479)
-
(2007)
Genetics in Medicine
, vol.9
, Issue.6
, pp. 372-377
-
-
AlHamdan, N.A.1
AlMazrou, Y.Y.2
AlSwaidi, F.M.3
Choudhry, A.J.4
-
31
-
-
73949131358
-
Steps toward the prevention of hemoglobinopathies in the Kingdom of Saudi Arabia
-
Al Shahrani M. Steps toward the prevention of hemoglobinopathies in the Kingdom of Saudi Arabia. Hemoglobin. 2009;33(Suppl 1):S21-S24.
-
(2009)
Hemoglobin
, vol.33
, Issue.SUPPL. 1
-
-
Al Shahrani, M.1
-
32
-
-
0031877984
-
α-Thalassemia in the United Arab Emirates
-
El-Kalla S, Basal E. α-Thalassemia in the United Arab Emirates. Acta Haematol. 1998;100(1):49-53.
-
(1998)
Acta Haematol
, vol.100
, Issue.1
, pp. 49-53
-
-
El-Kalla, S.1
Basal, E.2
-
33
-
-
0035073950
-
Molecular basis of α-thalassemia in Bahrain
-
Jassim N, Al-Arrayed S, Gérard N, et al. Molecular basis of α-thalassemia in Bahrain. Bahrain Med Bull. 2001;23(1):3-7.
-
(2001)
Bahrain Med Bull
, vol.23
, Issue.1
, pp. 3-7
-
-
Jassim, N.1
Al-Arrayed, S.2
Gérard, N.3
-
34
-
-
0028641678
-
Molecular characterization of α-thalassemia determinants β-thalassemia alleles and βs haplotypes among Kuwaiti Arabs
-
Adekile AD, Gu L-H, Baysal E, et al. Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Haematol. 1994;92(4):176-181.
-
(1994)
Acta Haematol
, vol.92
, Issue.4
, pp. 176-181
-
-
Adekile, A.D.1
Gu, L.-H.2
Baysal, E.3
-
35
-
-
15444376333
-
Mildly elevated liver transaminase levels in the asymptomatic patient
-
Giboney PT. Mildly elevated liver transaminase levels in the asymptomatic patient. Am Fam Physician. 2005;71(6):1105-1110. (Pubitemid 40395670)
-
(2005)
American Family Physician
, vol.71
, Issue.6
, pp. 1105-1110
-
-
Giboney, P.T.1
-
36
-
-
3242752034
-
High AST/ALT ratio may indicate advanced alcoholic liver disease rather than heavy drinking
-
DOI 10.1093/alcalc/agh074
-
Nyblom H, Berggren U, Balldin J, Olsson R. High AST/ALT ratio may indicate advanced alcoholic liver disease rather than heavy drinking. Alcohol Alcohol. 2004;39(4):336-339. (Pubitemid 38968090)
-
(2004)
Alcohol and Alcoholism
, vol.39
, Issue.4
, pp. 336-339
-
-
Nyblom, H.1
Berggren, U.2
Balldin, J.3
Olsson, R.4
-
37
-
-
41549140910
-
Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb-E disease
-
Sripichai O, Munkongdee T, Kukkhaek C, Vasti S, Winichagoon P, Fucharoen S. Coinheritance of the different copy numbers of α-globin gene modifies severity of β-thalassemia/Hb-E disease. Ann Hematol. 2008;87(5):375-379.
-
(2008)
Ann Hematol
, vol.87
, Issue.5
, pp. 375-379
-
-
Sripichai, O.1
Munkongdee, T.2
Kukkhaek, C.3
Vasti, S.4
Winichagoon, P.5
Fucharoen, S.6
-
38
-
-
57349129112
-
Controlling α-globin: A review of α-globin expression and its impact on β-thalassemia
-
Voon HP, Vadolas J. Controlling α-globin: a review of α-globin expression and its impact on β-thalassemia. Haematologica. 2008;93(12):1868-1876.
-
(2008)
Haematologica
, vol.93
, Issue.12
, pp. 1868-1876
-
-
Voon, H.P.1
Vadolas, J.2
|