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Alpha-thalassemia-2, nondeletional

MedGen UID:
864585
•Concept ID:
C4016148
•
Finding
Synonym: ALPHA-THALASSEMIA-2, NONDELETIONAL
 
OMIM®: 141850

Professional guidelines

PubMed

Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese.
Ko TM, Xu X
J Formos Med Assoc 1998 Jan;97(1):5-15. PMID: 9481058
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype.
Embury SH, Miller JA, Dozy AM, Kan YW, Chan V, Todd D
J Clin Invest 1980 Dec;66(6):1319-25. doi: 10.1172/JCI109984. PMID: 7440717Free PMC Article

Recent clinical studies

Etiology

The diverse molecular basis and hematological features of Hb H and AEBart's diseases in Northeast Thailand.
Boonsa S, Sanchaisuriya K, Fucharoen G, Wiangnon S, Jetsrisuparb A, Fucharoen S
Acta Haematol 2004;111(3):149-54. doi: 10.1159/000076523. PMID: 15034236
Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese.
Ko TM, Xu X
J Formos Med Assoc 1998 Jan;97(1):5-15. PMID: 9481058
Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia.
George E, Li HJ, Fei YJ, Reese AL, Baysal E, Cepreganova B, Wilson JB, Gu LH, Nechtman JF, Stoming TA
Hemoglobin 1992;16(1-2):51-66. doi: 10.3109/03630269209005676. PMID: 1634362
Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2.
Galanello R, Melis MA, Maccioni L, Pirastu M, Cao A
Pediatr Res 1984 Feb;18(2):158-62. doi: 10.1203/00006450-198402000-00009. PMID: 6322098
Organization of the alpha-globin genes in the Chinese alpha-thalassemia syndromes.
Embury SH, Lebo RV, Dozy AM, Kan YW
J Clin Invest 1979 Jun;63(6):1307-10. doi: 10.1172/JCI109426. PMID: 447845Free PMC Article

Diagnosis

Nondeletional Hb Queens Park [α32(B13)Met→Lys]/Hb H (β4) disease.
Sroymora S, Jindadamrongwech S, Butthep P, Chuncharunee S
Hemoglobin 2012;36(3):293-8. Epub 2012 Mar 2 doi: 10.3109/03630269.2012.658939. PMID: 22384838
Molecular study and prenatal diagnosis of alpha- and beta-thalassemias in Chinese.
Ko TM, Xu X
J Formos Med Assoc 1998 Jan;97(1):5-15. PMID: 9481058
The different types of alpha-thalassemia-2: genetic aspects.
Embury SH
Hemoglobin 1988;12(5-6):445-53. doi: 10.3109/03630268808991633. PMID: 3061977
Hydrops fetalis due to an unusual form of Hb H disease.
Chan V, Chan TK, Liang ST, Ghosh A, Kan YW, Todd D
Blood 1985 Jul;66(1):224-8. PMID: 2988669
Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2.
Galanello R, Melis MA, Maccioni L, Pirastu M, Cao A
Pediatr Res 1984 Feb;18(2):158-62. doi: 10.1203/00006450-198402000-00009. PMID: 6322098

Prognosis

The diverse molecular basis and hematological features of Hb H and AEBart's diseases in Northeast Thailand.
Boonsa S, Sanchaisuriya K, Fucharoen G, Wiangnon S, Jetsrisuparb A, Fucharoen S
Acta Haematol 2004;111(3):149-54. doi: 10.1159/000076523. PMID: 15034236
Longitudinal study of a newborn with a combination of deletion and nondeletion alpha-thalassemia-2.
Galanello R, Melis MA, Maccioni L, Pirastu M, Cao A
Pediatr Res 1984 Feb;18(2):158-62. doi: 10.1203/00006450-198402000-00009. PMID: 6322098

Clinical prediction guides

The diverse molecular basis and hematological features of Hb H and AEBart's diseases in Northeast Thailand.
Boonsa S, Sanchaisuriya K, Fucharoen G, Wiangnon S, Jetsrisuparb A, Fucharoen S
Acta Haematol 2004;111(3):149-54. doi: 10.1159/000076523. PMID: 15034236
Types of thalassemia among patients attending a large university clinic in Kuala Lumpur, Malaysia.
George E, Li HJ, Fei YJ, Reese AL, Baysal E, Cepreganova B, Wilson JB, Gu LH, Nechtman JF, Stoming TA
Hemoglobin 1992;16(1-2):51-66. doi: 10.3109/03630269209005676. PMID: 1634362
Differentiation of the mRNA transcripts originating from the alpha 1- and alpha 2-globin loci in normals and alpha-thalassemics.
Liebhaber SA, Kan YW
J Clin Invest 1981 Aug;68(2):439-46. doi: 10.1172/jci110273. PMID: 6894931Free PMC Article

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