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Alpha zero thalassemia

MedGen UID:
543723
•Concept ID:
C0272002
•
Disease or Syndrome
Synonym: Alpha thalassemia 1
SNOMED CT: Alpha zero thalassemia (66055002); Alpha thalassemia 1 (66055002)

Professional guidelines

PubMed

A reliable screening test to identify adult carriers of the (--SEA) alpha zero-thalassemia deletion. Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay.
Lafferty JD, Crowther MA, Waye JS, Chui DH
Am J Clin Pathol 2000 Dec;114(6):927-31. doi: 10.1309/26G7-BQH4-93BV-UR0Q. PMID: 11338482
Prenatal diagnosis of homozygous alpha zero-thalassemia by an immunological method.
Bernini LF, Kanhai HH, Losekoot M, Giordano P, Harteveld CL
Ann N Y Acad Sci 1994 Sep 7;731:193-6. doi: 10.1111/j.1749-6632.1994.tb55769.x. PMID: 7944118

Recent clinical studies

Diagnosis

Intra-abdominal umbilical vein varix associated with fetal cardiac failure: a pitfall to the prenatal diagnosis of α-zero-thalassemia.
Rosenblatt J, Loberstajn A, Coulomb A, Stos B, Garel C, Abarah B, Bénifla JL, Jouannic JM
Fetal Diagn Ther 2013;34(1):59-62. Epub 2013 Mar 19 doi: 10.1159/000345784. PMID: 23548473
A reliable screening test to identify adult carriers of the (--SEA) alpha zero-thalassemia deletion. Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay.
Lafferty JD, Crowther MA, Waye JS, Chui DH
Am J Clin Pathol 2000 Dec;114(6):927-31. doi: 10.1309/26G7-BQH4-93BV-UR0Q. PMID: 11338482
Prenatal diagnosis of homozygous alpha zero-thalassemia by an immunological method.
Bernini LF, Kanhai HH, Losekoot M, Giordano P, Harteveld CL
Ann N Y Acad Sci 1994 Sep 7;731:193-6. doi: 10.1111/j.1749-6632.1994.tb55769.x. PMID: 7944118
HbH disease in Sardinia: molecular, hematological and clinical aspects.
Galanello R, Aru B, Dessì C, Addis M, Paglietti E, Melis MA, Cocco S, Massa P, Giagu N, Barella S
Acta Haematol 1992;88(1):1-6. doi: 10.1159/000204585. PMID: 1414154
Alpha thalassemia British type (alpha alpha/--Brit) in an Australian family.
Wilkinson T, Yakas J, Kronenberg H, Trent RJ
Pathology 1986 Apr;18(2):193-5. doi: 10.3109/00313028609059458. PMID: 3020489

Prognosis

Intra-abdominal umbilical vein varix associated with fetal cardiac failure: a pitfall to the prenatal diagnosis of α-zero-thalassemia.
Rosenblatt J, Loberstajn A, Coulomb A, Stos B, Garel C, Abarah B, Bénifla JL, Jouannic JM
Fetal Diagn Ther 2013;34(1):59-62. Epub 2013 Mar 19 doi: 10.1159/000345784. PMID: 23548473
HbH disease in Sardinia: molecular, hematological and clinical aspects.
Galanello R, Aru B, Dessì C, Addis M, Paglietti E, Melis MA, Cocco S, Massa P, Giagu N, Barella S
Acta Haematol 1992;88(1):1-6. doi: 10.1159/000204585. PMID: 1414154

Clinical prediction guides

A reliable screening test to identify adult carriers of the (--SEA) alpha zero-thalassemia deletion. Detection of embryonic zeta-globin chains by enzyme-linked immunosorbent assay.
Lafferty JD, Crowther MA, Waye JS, Chui DH
Am J Clin Pathol 2000 Dec;114(6):927-31. doi: 10.1309/26G7-BQH4-93BV-UR0Q. PMID: 11338482
HbH disease in Sardinia: molecular, hematological and clinical aspects.
Galanello R, Aru B, Dessì C, Addis M, Paglietti E, Melis MA, Cocco S, Massa P, Giagu N, Barella S
Acta Haematol 1992;88(1):1-6. doi: 10.1159/000204585. PMID: 1414154

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