Coinheritance of Gaucher disease and α-thalassemia resulting in confusion between two inherited hematologic diseases

被引：5

作者：

Miri-Moghaddam, Ebrahim ^{[2
]}

Velayati, Arash ^{[1
]}

Naderi, Majid ^{[3
]}

Tayebi, Nahid ^{[1
]}

Sidransky, Ellen ^{[1
]}

机构：

[1] NHGRI, Sect Mol Neurogenet, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] Zahedan Univ Med Sci, Dept Immunohematol, Fac Med, Zahedan, Iran

[3] Zahedan Univ Med Sci, Res Ctr Children & Adolescent, Zahedan, Iran

来源：

BLOOD CELLS MOLECULES AND DISEASES | 2011年 / 46卷 / 01期

关键词：

Gaucher disease; alpha-Thalassemia; Splenomegaly; Hemoglobinopathies; GLUCOCEREBROSIDASE GENE; MUTATIONS;

D O I：

10.1016/j.bcmd.2010.08.007

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Gaucher type 1 disease has a wide spectrum of phenotypes ranging from asymptomatic individuals to patients with massive hepatosplenomegaly and bone involvement. In most, anemia, thrombocytopenia and splenomegaly are the primary manifestations at diagnosis, findings shared by the hemoglobinopathies. Here we report the co-inheritance of alpha-thalassemia and Gaucher disease in a consanguineous family followed in Iran, which resulted in confusion regarding the diagnosis. This report emphasizes the need to independently establish the diagnosis of every affected member of a family to ensure appropriate management and therapeutic decisions. (C) 2010 Published by Elsevier Inc.

引用

页码：88 / 91

页数：4

共 18 条

[1]

Beutler E, 1996, HUM MUTAT, V8, P207, DOI 10.1002/(SICI)1098-1004(1996)8:3<207::AID-HUMU2>3.3.CO

[2]

2-5

[3] Enzyme replacement for lysosomal diseases [J].

Brady, RO .

ANNUAL REVIEW OF MEDICINE, 2006, 57 :283-296

[4]

GAUCHER PCE, 1882, THESIS OCTAVE DOIN P

[5] Mutation analysis of the acid β-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase [J].

Germain, DP ;

Kaneski, CR ;

Brady, RO .

MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS, 2001, 483 (1-2) :89-94

[6]

HIGGS DR, 1989, BLOOD, V73, P1081

[7] THE HUMAN GLUCOCEREBROSIDASE GENE AND PSEUDOGENE - STRUCTURE AND EVOLUTION [J].

HOROWITZ, M ;

WILDER, S ;

HOROWITZ, Z ;

REINER, O ;

GELBART, T ;

BEUTLER, E .

GENOMICS, 1989, 4 (01) :87-96

[8] Gaucher disease:: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA) [J].

Hruska, Kathleen S. ;

LaMarca, Mary E. ;

Scott, C. Ronald ;

Sidransky, Ellen .

HUMAN MUTATION, 2008, 29 (05) :567-583

[9]

KAZAZIAN HH, 1990, SEMIN HEMATOL, V27, P209

[10]

Liu YT, 2000, BRIT J HAEMATOL, V108, P295

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