Author, Subjects, Keywords

Cited Author

 

 
   » By Author or Editor
 » Browse Author by Alphabet
 » By Journal
 » By Subjects
 » Malaysian Journals
 » By Type
 » By Year
 » By Latest Additions
 
 
   » By Author
 » Top 20 Authors
 » Top 20 Article
 » Top Journal Cited
 » Top Article Cited
 » Journal Citation Statistics
 » Usage Since Sept 2007


 
 
 

Login | Create Account

Haemoglobin Lepore in a Malay Family: A Case Report

Pasangna, Josephine, and George, Elizabeth, and Nagaratnam, Menaka, (2005) Haemoglobin Lepore in a Malay Family: A Case Report. Malaysian Journal of Pathology, 27 (1). pp. 33-37. ISSN 0126-8635

[img]
Preview
PDF - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
413Kb

Official URL: http://www.mjpath.org.my/past_issue/MJP2005.1/07Haemoglobin.pdf

Affiliations

University of Malaya, Faculty of Medicine. Dept. of Pathology
University Putra Malaysia, Faculty of Medicine. Dept. of Clinical Laboratory Sciences, Haematology Unit
University of Malaya, Faculty of Medicine. Dept. of Pathology

Abstract

A 2-year-old Malay boy was brought to the University Malaya Medical Centre for thalassaemia screening. Physical examination revealed thalassaemia facies, pallor, mild jaundice, hepatomegaly and splenomegaly. Laboratory investigations on the patient including studies on the parents lead to a presumptive diagnosis of homozygous Haemoglobin Lepore (Hb Lepore). The aim of this paper
is to increase awareness of this rare disorder, this being the first case documented in Malaysia in a Malay. The case also demonstrates the need for this disorder to be included in the differential diagnosis of patients presenting clinically like thalassemia intermedia or thalassemia major. Accurate diagnosis would provide information necessary for prenatal diagnosis, proper clinical management and genetic counseling. The clinical, haematological and laboratory features of this disorder are discussed in this paper.

Item Type:Journal
Keywords:Haemoglobin Lepore, Thalassaemia-like disorder
Subjects:R Medicine, Dentistry, Pharmacy, Nursing
ID Code:3821

1. Ribeiro ML, Cunha E., Goncalves P et al. Hb. Lepore- Baltimore and Hb Lepore-Washington- Boston in Central Portugal and Spanish Alta Extremadura. Hum. Genet. 1997; 99: 669-73

2. Shaji RV, Edison ES, Krishamoorthy R, Chandy M, Srivastava A. Hb Lepore in the Indian population. Hemoglobin 2003; 27:7-14

3. Viprakasit V, Pung-Amritt P, Suwanthon L, Clark K, Tanphaichitr VS. Complex interactions of [delta] [beta] hybrid haemoglobin (Hb Lepore- Hollandia) Hb E ([beta]26G>A) and [alpha]+ thalassaemia in a Thai family. Eu J Haematol 2002; 68:107-12.

4. Ropero P, Gonzalez FA, Sanchez J et al. Identification

of the Hb Lepore phenotype by HPLC. Haematologica 1999; 84: 1081-4

5. The δ β and related thalassaemias. In: Weatherall DJ and Clegg JB, editors. The Thalassemia Syndromes. 4th ed. Blackwell Science Ltd; 2001. p. 361-63

6. Olivieri NF, Rees DC, Ginder GD et al. Treatment of thalassemia major with phenylbutyrate and hydroxyurea.

Lancet 1997; 350: 491-2

7. Duma H, Efremov G, Sadikario A et al. Study of nine families with haemoglobin Lepore. Br J Haematol. 1968; 15: 161-72

8. Quattrin N, Luzzatto L, Quattrin S. New clinical and biochemical findings from 235 patients with haemoglobin Lepore. Ann NY Acad Sci 1980; 344: 364 -74

9. Huisman TH. Compound heterozygosity for HbS and the hybrid Hb S Lepore. Comparision of haematological and haemoglobin composition data. Hemoglobin 1997; 21: 249-57

10. Pearson HA, Mc Farland W, King ER. Erythrokinetic studies in thalassemia trait. J Lab Clin Med 1960; 56:866-73

Repository Staff Only: item control page