Clinical, genetic and cytogenetic study of Fanconi anemia in an Indian population

Hematology
S KorgaonkarBabu Rao Vundinti

Abstract

Fanconi anemia (FA) is a rare autosomal recessive genetic disease, associated with congenital anomalies and a predisposition to cancers. FA patients exhibit spontaneous chromosome breakage and FA cells are sensitive to DNA interstrand crosslink agents and expresses high frequency of chromosome breakage. Recently 13 genes have been shown to be involved with the FA phenotype. We have carried out a detailed study in clinically diagnosed FA patients in an Indian population. Thirty three patients were clinically diagnosed with FA and had aplastic anemia and bleeding abnormalities. The genetic analysis revealed a significantly (P<0.0001) high frequency (36.4%) of parental consanguinity in FA patients compared to controls (3.33%). Chromosomal analysis revealed spontaneous chromosome breakage in 63.64% FA patients. The mitomycin C and diepoxybutane induced cultures showed a significantly (P<0.001) high frequency of chromosome breakage and radial formation compared to controls. Among 33 patients, nine (27.27%) patients developed malignancies and chromosomal abnormalities were detected in five (55.5%) patients bone marrow cells including monosomy 5 and 7, trisomy 10, der(1q) and inv(7). Cytogenetic investigation is important in aplastic ...Continue Reading

References

Dec 1, 1982·Journal of Medical Genetics·A Glanz, F C Fraser
Oct 24, 2002·Blood·Philip S RosenbergBlanche P Alter
Apr 3, 2004·Blood·Philip S RosenbergBlanche P Alter
Sep 14, 2006·British Medical Bulletin·Inderjeet Dokal

❮ Previous
Next ❯

Citations

Jan 23, 2013·Journal of Pediatric Hematology/oncology·Faten TalmoudiUNKNOWN Tunisian Fanconi Anemia Study Group
Jul 9, 2011·American Journal of Medical Genetics. Part a·Philip S RosenbergBlanche P Alter
Jul 11, 2012·European Journal of Haematology·Dharmendra JainVimarsh Raina
Nov 13, 2012·Journal of Clinical Laboratory Analysis·Dharmendra JainBalwant K Malik
Apr 17, 2012·Progress in Neuro-psychopharmacology & Biological Psychiatry·Wen-bin GuoJing-ping Zhao
May 9, 2015·Italian Journal of Pediatrics·Ponnumony John SolomonSoo Hyun Seo
Jan 5, 2021·Molecular Biology Reports·Anjali ShahBabu Rao Vundinti

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.

Carcinoma, Squamous Cell

Basal cell carcinoma is a form of malignant skin cancer found on the head and neck regions and has low rates of metastasis. Discover the latest research on basal cell carcinoma here.