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Thalassemia, gamma-delta-beta

MedGen UID:
864684
•Concept ID:
C4016247
•
Finding
Synonym: THALASSEMIA, GAMMA-DELTA-BETA
SNOMED CT: Gamma delta beta thalassemia (788944005)
 
OMIM®: 152424

Professional guidelines

PubMed

Prenatal diagnosis of inherited hemoglobinopathies.
Cao A, Rosatelli C, Pirastu M
J Genet Hum 1986 Nov;34(5):413-24. PMID: 3540210

Recent clinical studies

Etiology

Molecular characterization of delta beta-thalassemia and hereditary persistence of fetal hemoglobin in the Indian population.
Nadkarni A, Wadia M, Gorakshakar A, Kiyama R, Colah RB, Mohanty D
Hemoglobin 2008;32(5):425-33. doi: 10.1080/03630260802341687. PMID: 18932066
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL
Blood 1994 Mar 15;83(6):1673-82. PMID: 7510147
A Chinese G gamma + (A gamma delta beta)zero thalassemia deletion: comparison to other deletions in the human beta-globin gene cluster and sequence analysis of the breakpoints.
Mager DL, Henthorn PS, Smithies O
Nucleic Acids Res 1985 Sep 25;13(18):6559-75. doi: 10.1093/nar/13.18.6559. PMID: 2997715Free PMC Article
Disorders of human hemoglobin.
Bank A, Mears JG, Ramirez F
Science 1980 Feb 1;207(4430):486-93. doi: 10.1126/science.7352255. PMID: 7352255
The organization of the gamma-delta-beta gene complex in normal and thalassemia cells.
Bank A, Mears JG, Ramirez F, Burns AL, Spence S, Feldenzer J, Baird M
Hemoglobin 1980;4(3-4):497-507. doi: 10.3109/03630268008996230. PMID: 6252123

Diagnosis

Blueberry Muffin Skin Lesions in an Infant With Epsilon Gamma Delta Beta Thalassemia.
Puar N, Newell B, Shao L
Pediatr Dev Pathol 2019 Nov-Dec;22(6):599-600. Epub 2019 May 14 doi: 10.1177/1093526619850663. PMID: 31088202
The clinical severity of hemoglobin S/Black ((A) γδβ)(0) -thalassemia.
Cancio MI, Aygun B, Chui DHK, Rothman JA, Scott JP, Estepp JH, Hankins JS
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 28 doi: 10.1002/pbc.26596. PMID: 28453928Free PMC Article
A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.
Shalev H, Landau D, Pissard S, Krasnov T, Kapelushnik J, Gilad O, Broides A, Dgany O, Tamary H
Eur J Haematol 2013 Feb;90(2):127-33. Epub 2013 Jan 7 doi: 10.1111/ejh.12047. PMID: 23206178
Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification.
Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL
Blood 1994 Mar 15;83(6):1673-82. PMID: 7510147
Overview of the beta thalassemias: genetic and clinical aspects.
Schwartz E, Cohen A, Surrey S
Hemoglobin 1988;12(5-6):551-64. doi: 10.3109/03630268808991644. PMID: 2463234

Prognosis

The clinical severity of hemoglobin S/Black ((A) γδβ)(0) -thalassemia.
Cancio MI, Aygun B, Chui DHK, Rothman JA, Scott JP, Estepp JH, Hankins JS
Pediatr Blood Cancer 2017 Nov;64(11) Epub 2017 Apr 28 doi: 10.1002/pbc.26596. PMID: 28453928Free PMC Article
Persistent pulmonary hypertension of the newborn associated with severe congenital anemia of various etiologies.
Landau D, Kapelushnik J, Harush MB, Marks K, Shalev H
J Pediatr Hematol Oncol 2015 Jan;37(1):60-2. doi: 10.1097/MPH.0000000000000064. PMID: 24309603
Hemoglobinopathies in Yugoslavia: an update.
Efremov GD
Hemoglobin 1992;16(6):531-44. doi: 10.3109/03630269208993124. PMID: 1487426
Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.
Trent RJ, Williams BG, Kearney A, Wilkinson T, Harris PC
Blood 1990 Nov 15;76(10):2132-8. PMID: 2242432

Clinical prediction guides

A novel epsilon gamma delta beta thalassemia presenting with pregnancy complications and severe neonatal anemia.
Shalev H, Landau D, Pissard S, Krasnov T, Kapelushnik J, Gilad O, Broides A, Dgany O, Tamary H
Eur J Haematol 2013 Feb;90(2):127-33. Epub 2013 Jan 7 doi: 10.1111/ejh.12047. PMID: 23206178
Molecular and hematologic characterization of Scottish-Irish type (epsilon gamma delta beta)zero thalassemia.
Trent RJ, Williams BG, Kearney A, Wilkinson T, Harris PC
Blood 1990 Nov 15;76(10):2132-8. PMID: 2242432
Hereditary persistence of fetal hemoglobin or (delta beta)o-thalassemia: three types observed in South-Chinese families.
Zeng YT, Huang SZ, Chen B, Liang YC, Chang ZM, Harano T, Huisman TH
Blood 1985 Dec;66(6):1430-5. PMID: 2415188
(A gamma delta beta) thalassaemia: similarity of phenotype in four different molecular defects, including one newly described.
Trent RJ, Jones RW, Clegg JB, Weatherall DJ, Davidson R, Wood WG
Br J Haematol 1984 Jun;57(2):279-89. doi: 10.1111/j.1365-2141.1984.tb02897.x. PMID: 6329258
The gamma chain heterogeneity of fetal hemoglobin in black beta-thalassemia and HPFH heterozygotes.
Huisman TH, Gravely ME, Webber B, Okonjo K, Henson J, Reese AL
Blood 1981 Jul;58(1):62-70. PMID: 6165415

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