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Guidelines for screening, diagnosis and management of hemoglobinopathies.

Ghosh K, Colah R, Manglani M, Choudhry VP, Verma I, Madan N, Saxena R, Jain D, Marwaha N, Das R, Mohanty D, Choudhary R, Agarwal S, Ghosh M, Ross C - Indian J Hum Genet (2014)

Bottom Line: The β-thalassemias and sickle cell disorders are a major health burden in India.Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India.Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.

View Article: PubMed Central - PubMed

Affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital, Parel, Mumbai, India.

ABSTRACT
The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Newborn screening for sickle cell disorders is in its infancy in India and uniform approaches need to be followed. Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.

No MeSH data available.


Related in: MedlinePlus

The structure of a prototypical globin gene
© Copyright Policy - open-access
Related In: Results  -  Collection

License
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Figure 3: The structure of a prototypical globin gene

Mentions: The structure of all the genes is similar and consists of three exons or coding regions, two introns or intervening sequences, a promoter region at the 5′ end before the first exon and a poly A tail at the 3′end [Figure 3]. A locus control region (LCR) located upstream of the cluster and specific promoter sequences regulate the expression of these globin genes.


Guidelines for screening, diagnosis and management of hemoglobinopathies.

Ghosh K, Colah R, Manglani M, Choudhry VP, Verma I, Madan N, Saxena R, Jain D, Marwaha N, Das R, Mohanty D, Choudhary R, Agarwal S, Ghosh M, Ross C - Indian J Hum Genet (2014)

The structure of a prototypical globin gene
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4228561&req=5

Figure 3: The structure of a prototypical globin gene
Mentions: The structure of all the genes is similar and consists of three exons or coding regions, two introns or intervening sequences, a promoter region at the 5′ end before the first exon and a poly A tail at the 3′end [Figure 3]. A locus control region (LCR) located upstream of the cluster and specific promoter sequences regulate the expression of these globin genes.

Bottom Line: The β-thalassemias and sickle cell disorders are a major health burden in India.Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India.Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.

View Article: PubMed Central - PubMed

Affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, K.E.M. Hospital, Parel, Mumbai, India.

ABSTRACT
The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Newborn screening for sickle cell disorders is in its infancy in India and uniform approaches need to be followed. Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.

No MeSH data available.


Related in: MedlinePlus