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Hemoglobin Lepore Syndrome

MedGen UID:
1644312
•Concept ID:
C4683758
•
Disease or Syndrome

Definition

A beta thalassemia resulting from an unequal crossover/recombination event involving portions of the delta and beta globin genes, resulting in underproduction of the abnormal delta-beta globin. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemoglobin Lepore Syndrome

Recent clinical studies

Etiology

Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis.
Waye JS, Patterson M, Walker L, Eng B, Nakamura LM, Lafferty JD, Yong SL, Wu JK, Chui DH
Am J Hematol 2003 Nov;74(3):179-81. doi: 10.1002/ajh.10423. PMID: 14587045
Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian.
Efremov GD
Haematologica 1990 Sep-Oct;75 Suppl 5:31-41. PMID: 2086380

Diagnosis

Hb Lepore-Hong Kong: First Report of a Novel δ/β-Globin Gene Fusion in a Chinese Family.
Jiang F, Tang XW, Li J, Zhou JY, Zuo LD, Li DZ
Hemoglobin 2021 Jul;45(4):220-224. Epub 2021 Jul 26 doi: 10.1080/03630269.2021.1956945. PMID: 34309467
Molecular basis of thalassemia syndromes in Serbia and Montenegro.
Pavlovic S, Urosevic J, Poznanic J, Perisic LJ, Petrucev B, Tosic N, Krivokapic-Dokmanovic L, Janic D, Cvorkov-Drazic M, Bunjevacki G
Acta Haematol 2005;113(3):175-80. doi: 10.1159/000084447. PMID: 15870487
Beta-thalassemia in association with a new delta-chain hemoglobin variant [delta116(g18)Arg-->Leu]: implications for carrier screening and prenatal diagnosis.
Waye JS, Patterson M, Walker L, Eng B, Nakamura LM, Lafferty JD, Yong SL, Wu JK, Chui DH
Am J Hematol 2003 Nov;74(3):179-81. doi: 10.1002/ajh.10423. PMID: 14587045
Sickle cell-Hb Lepore Boston syndrome. Uncommon differential diagnosis to homozygous sickle cell disease.
Stevens MC, Lehmann H, Mason KP, Serjeant BE, Serjeant GR
Am J Dis Child 1982 Jan;136(1):19-22. PMID: 7055103
The thalassemia syndromes.
Weatherall DJ
Tex Rep Biol Med 1980-1981;40:323-33. PMID: 7034274

Therapy

The thalassemia syndromes.
Weatherall DJ
Tex Rep Biol Med 1980-1981;40:323-33. PMID: 7034274

Clinical prediction guides

Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian.
Efremov GD
Haematologica 1990 Sep-Oct;75 Suppl 5:31-41. PMID: 2086380

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