scholarly journals Alpha and beta-Thalassemia mutations in Hubei area of China

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Yaowu Zhu ◽  
Na Shen ◽  
Xiong Wang ◽  
Juan Xiao ◽  
Yanjun Lu
Keyword(s):  
Mean Corpuscular Volume ◽  
Southern China ◽  
Hubei Province ◽  
Beta Thalassemia ◽  
Corpuscular Volume ◽  
Dot Blot ◽  
Inherited Disorders ◽  
Great Heterogeneity ◽  
Reverse Dot Blot

Abstract Background Thalassemia is a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains, which is one of the most prevalent inherited disorders in southern China. Only few studies reported the molecular characterization of α- and β-Thalassemia in Hubei Province in the central of China. Methods A total of 4889 clinically suspected cases of thalassemia were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB). Results 1706 (33.8%) subjects harbored thalassemia mutations, including 539 (11.0%) subjects with α-thalassemia, 1140 (23.3%) subjects with β-thalassemia mutations, and 25 (0.51%) subjects with both α- and β-thalassemia mutations. Seven genotypes of α-thalassemia mutations and 29 genotypes of β-thalassemia mutations were characterized. --SEA/αα (66.05%), −α3.7/αα (24.12%), and -α4.2/αα (3.71%) accounted for 93.88% of the α-thalassemia mutations. βIVS-II-654/βN, βCD41–42/βN, βCD17/βN, βCD27–28/βN, βCD71–72/βN, β − 28/βN, β − 29/βN, βCD43/βN, βE/βN, accounting for 96.40% of all β-thalassemia genotypes. Furthermore, mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) were sensitive markers for both β-thalassemia and α-thalassemia with --SEA/αα, but not -α3.7/αα and -α4.2/αα. Conclusions: Our data indicated great heterogeneity and extensive spectrum of thalassemias in Hubei province of China.

scholarly journals A simple approach to prenatal diagnosis of beta-thalassemia in a geographic area where multiple mutations occur

Blood ◽  
1988 ◽  
Vol 71 (5) ◽  
pp. 1357-1360 ◽  
Author(s):  
SP Cai ◽  
JZ Zhang ◽  
DH Huang ◽  
ZX Wang ◽  
YW Kan
Keyword(s):  
Southern China ◽  
Globin Gene ◽  
Blot Hybridization ◽  
Geographic Area ◽  
Simple Approach ◽  
Beta Thalassemia ◽  
Beta Globin ◽  
Dot Blot ◽  
Polymerase Chain

Abstract We describe a simple approach for detecting beta-thalassemia mutations in geographic areas such as southern China where multiple mutations are known to occur. Segments of the beta-globin gene were amplified in vitro by using the polymerase chain reaction. Dot blot hybridization of the amplified DNA with oligonucleotide probes corresponding to the six mutations found in southern China could directly identify the mutations causing beta-thalassemia in the affected families. The increased number of target sequences after amplification allows the use of 35S-labeled probes, which are reusable for up to 3 months. The mutations can be determined in two days.

scholarly journals Reverse dot-blot detection of the African-American beta-thalassemia mutations

Blood ◽  
1995 ◽  
Vol 86 (4) ◽  
pp. 1580-1585 ◽  
Author(s):  
P Sutcharitchan ◽  
R Saiki ◽  
TH Huisman ◽  
A Kutlar ◽  
V McKie ◽  
...  
Keyword(s):  
African American ◽  
African Americans ◽  
Ethnic Groups ◽  
Accurate Method ◽  
Beta Thalassemia ◽  
Dot Blot ◽  
Pcr Products ◽  
Hb S ◽  
Reverse Dot Blot ◽  
Hb C

DNA-based diagnosis of the beta thalassemias provides accuracy to newborn screening genetic counseling, and prenatal diagnosis. However, the use of polymerase chain reaction (PCR)-based methods is challenged by the great number of different-beta-thalassemia mutations that exist even within defined ethnic groups. In this regard, the reverse dot-blot method offers a means of screening for several mutations with a single hybridization reaction. We have applied the reverse dot-blot method to the detection of the beta-thalassemia mutations of African-Americans. We used two biotin-labeled primer pairs in a duplex reaction to amplify and label two beta-globin target DNA fragments that encompass all known African-American beta-thalassemia mutations. The PCR products were denatured and hybridized to polyT-tailed, membrane-fixed, allele- specific probe pairs for the hemoglobin (Hb) S, Hb C, and 14 beta- thalassemia mutations and their corresponding wild-type sequences. Seven common mutations plus Hb S and Hb C were included on one diagnostic strip, and seven less common beta-thalassemia mutations were included on another strip. Carefully controlled, high stringency hybridization allowed accurate distinction of these alleles. Reverse dot-blot diagnosis of the less common beta-thalassemia mutations precludes the need for alternative, more technically challenging methods. This method provides a rapid, accurate method for diagnosis of beta thalassemia among African-Americans and other ethnic groups in which beta thalassemia occurs.

Prenatal Diagnosis of β-Thalassemia by Reverse Dot-Blot Hybridization in Southern China

Hemoglobin ◽  
2006 ◽  
Vol 30 (3) ◽  
pp. 365-370 ◽  
Author(s):  
Dongzhi Li ◽  
Can Liao ◽  
Jian Li ◽  
Yining Huang ◽  
Xingmei Xie ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Southern China ◽  
Blot Hybridization ◽  
Dot Blot ◽  
Dot Blot Hybridization ◽  
Reverse Dot Blot Hybridization ◽  
Reverse Dot Blot

scholarly journals Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily

Blood ◽  
1993 ◽  
Vol 81 (1) ◽  
pp. 239-242 ◽  
Author(s):  
A Maggio ◽  
A Giambona ◽  
SP Cai ◽  
J Wall ◽  
YW Kan ◽  
...  
Keyword(s):  
Globin Gene ◽  
Blot Hybridization ◽  
Beta Thalassemia ◽  
Dot Blot ◽  
Hemoglobin C ◽  
Mediterranean Regions ◽  
Analysis Application ◽  
Working Day ◽  
Dot Blot Analysis ◽  
Reverse Dot Blot

Abstract The molecular lesions causing beta-thalassemia in Sicily can be subdivided into two groups. One that occurs at a 71% frequency and consists of the beta 39, IVS 1,110 and IVS 1,6 mutations and the other group at a 20% frequency comprising the -87, beta s, IVS 1,1 and IVS 2,745 mutations. The identification of all these mutations by polymerase chain reaction (PCR) and conventional dot-blot hybridization has been time consuming and expensive. In this article, we describe the implementation of the reverse dot-blot (RDB) hybridization as a rapid nonradioactive method for the identification of the nine most frequent molecular lesions in the beta-globin gene (-87, beta s, beta c, IVS 1,1, IVS 1,6, IVS 1,110, beta 39, IVS 2,1, IVS 2,745) in Sicily. Sixty prenatal diagnoses were performed by this RDB assay, each of which was confirmed by dot-blot/ASO hybridization; thus demonstrating the accuracy of the RDB. The main advantage of this assay is the rapid typing of an individual's DNA for many mutations in a single working day. Because the mutations in this assay are representative for the Mediterranean region, this mutational panel can also be extended to the screening of beta-thalassemia from other Mediterranean regions.

The isolation and characterization of human and bovine strains of Babesia divergens from Drumnadrochit, Scotland

Parasitology ◽  
1980 ◽  
Vol 81 (1) ◽  
pp. 145-155 ◽  
Author(s):  
D. Lewis ◽  
R. E. Purnell ◽  
S. R. Shaw ◽  
J. P. Revington
Keyword(s):  
Mean Corpuscular Volume ◽  
Corpuscular Volume ◽  
Human Origin ◽  
Isolation And Characterization ◽  
Babesia Divergens ◽  
Blood Smears ◽  
Bovine Strain

SUMMARYStrains of Babesia divergens of human and bovine origin were isolated from the same locality in Scotland. A morphometric comparison was then made between Babesia divergens parasites in blood smears made from groups of 3 splenectomized calves reacting to the inoculation of these strains. The various forms taken by the parasites of each strain were seen to be divisible into 7 categories and representatives of each category were found for each strain. More amoeboid forms were found in blood smears from calves infected with the strain of bovine origin but otherwise the frequencies of occurrence of different forms coincided. The dimensions of 3 forms of the parasites of each strain were compared and theparasites of human origin were found to be significantly larger. The reactions of the groups of calves to inoculation of the 2 strains of B. divergens were seen to be very similar, although inoculation of the bovine strain had a slightly greater effect on the animals' haematology as indicated by an increase in erythrocyte mean corpuscular volume.

scholarly journals Quantitative anisocytosis as a discriminant between iron deficiency and thalassemia minor

Blood ◽  
1979 ◽  
Vol 53 (2) ◽  
pp. 288-293 ◽  
Author(s):  
JD Bessman ◽  
DI Feinstein
Keyword(s):  
Iron Deficiency ◽  
Mean Corpuscular Volume ◽  
Normal Subjects ◽  
Deficiency Anemia ◽  
Beta Thalassemia ◽  
Red Cell ◽  
Corpuscular Volume ◽  
Alpha Thalassemia ◽  
Thalassemia Minor ◽  
Cell Sizing

Abstract The coefficient of variation (CV) of red cell size, as measured by electronic red cell sizing (erythrography), was less than 14.0% in 20 normal subjects. In 22 of 25 patients with beta-thalassemia minor and microcytosis (mean corpuscular volume [MCV] less than 70 fl), CV was less than 14.0%; in the other 3, CV was 14.0%--14.9%. In 53 patients with iron deficiency anemia and MCV less than 70 fl, CV always was greater than 14.0%. In 7 patients with alpha-thalassemia minor and MCV less than 70 fl, CV was less than 14.0% in all 7. Among patients with microcytosis, erythrography appears to be an excellent technique for rapidly distinguishing between iron deficiency and alpha or beta thalassemia minor.

scholarly journals Mean corpuscular volume of heterozygotes for beta-thalassemia correlates with the severity of mutations

Blood ◽  
1992 ◽  
Vol 79 (1) ◽  
pp. 238-243
Author(s):  
D Rund ◽  
D Filon ◽  
N Strauss ◽  
EA Rachmilewitz ◽  
A Oppenheim
Keyword(s):  
Mean Corpuscular Volume ◽  
Rapid Identification ◽  
Beta Thalassemia ◽  
Mean Corpuscular Hemoglobin ◽  
Corpuscular Volume ◽  
Wide Range ◽  
Alpha Gene ◽  
Planning Strategies ◽  
Almost All ◽  
The Relationship

The relationship between the degree of microcytosis and the type of mutation carried by beta-thalassemia heterozygotes was investigated. In 113 individuals, 18 different mutations were identified, correlated with mean corpuscular volume (MCV) values, and analyzed statistically. Overall, there was a wide range of MCV (56.3–87.3 fL). In almost all cases, carriers of beta(0) mutations had an MCV below 67 fL, whereas all but a few beta(+) heterozygotes had MCVs above this cutpoint. Mean MCV of beta(0) carriers was statistically significantly lower than those of beta(+) heterozygotes. The various beta(+) mutations were associated with significant differences in mean MCV values. In contrast, all the beta(0) (null) mutations had virtually identical ranges of MCV. The results indicate that degree of reduction in MCV is directly related to the severity of the mutation. Deviations, in four cases, were associated with concurrent alpha gene rearrangements, whereas in three other cases, the MCV was not significantly affected by concurrent alpha rearrangements. The MCV of beta-thalassemia heterozygotes is a valuable parameter in planning strategies for rapid identification of mutations in populations with great mutational diversity. Its use can be particularly advantageous in the setting of prenatal diagnosis. The pattern of mean corpuscular hemoglobin (MCH) values was similar to the MCV pattern. However, our results suggest that MCH may be preferred for carrier detection in population screening.

scholarly journals Quantitative anisocytosis as a discriminant between iron deficiency and thalassemia minor

Blood ◽  
1979 ◽  
Vol 53 (2) ◽  
pp. 288-293 ◽  
Author(s):  
JD Bessman ◽  
DI Feinstein
Keyword(s):  
Iron Deficiency ◽  
Mean Corpuscular Volume ◽  
Normal Subjects ◽  
Deficiency Anemia ◽  
Beta Thalassemia ◽  
Red Cell ◽  
Corpuscular Volume ◽  
Alpha Thalassemia ◽  
Thalassemia Minor ◽  
Cell Sizing

The coefficient of variation (CV) of red cell size, as measured by electronic red cell sizing (erythrography), was less than 14.0% in 20 normal subjects. In 22 of 25 patients with beta-thalassemia minor and microcytosis (mean corpuscular volume [MCV] less than 70 fl), CV was less than 14.0%; in the other 3, CV was 14.0%--14.9%. In 53 patients with iron deficiency anemia and MCV less than 70 fl, CV always was greater than 14.0%. In 7 patients with alpha-thalassemia minor and MCV less than 70 fl, CV was less than 14.0% in all 7. Among patients with microcytosis, erythrography appears to be an excellent technique for rapidly distinguishing between iron deficiency and alpha or beta thalassemia minor.

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