Question

the topic of related to public health or health informatics :Genetic blood diseases 1. List down your study question, study goal, and study specific objectives, for approval 2. Why you have selected this topic and why it is important? what are its scopes in health 3. Give a brief introduction of your research topic along with its key terms Instructions: Not exceed 2 pages of length, and Include at least 5 scientific references.

Answer 1

Study question:

Use of genetic counseling in sickle cell anaemia, among couples at risk.

Goal:

To assess the effect of genetic counseling among couples at risk for sickle cell anaemia.

Objectives: .

1. To identify couples who are carriers and at risk of transmitting sickle cell anaemia.

2. To counsel the couples about the characteristics, complications and diagnostic measures of the illness.

3. To guide them through the decision making process of procreation.

Need and scope of the study:

It is estimated that sickle cell disease affects approximately 100,000 Americans. It occurs among about 1 out of every 365 Black or African-American births. It occurs among about 1 out of every 16,300 Hispanic-American births.About 1 in 13 Black or African-American babies is born with sickle cell trait ¹. During 2005, medical expenditures for children with Sickle cell disease averaged $11,702 for children with Medicaid coverage and $14,772 for children with employer-sponsored insurance. About 40% of both groups had at least one hospital stay². Sickle cell disease is a major public health concern. From 1989 through 1993, an average of 75,000 hospitalizations due to sickle cell disease occurred in the United States, costing approximately $475 million³.

Genetic counseling is the process by which the patients or relatives at risk of an inherited disorder are advised of the consequences and nature of the disorder, the probability of developing or transmitting it, and the options open to them in management and family planning.The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia⁴.

An increasing body of evidence has shown that premarital counseling and testing can indeed reduce the prevalence of inherited disorders of Hb, principally by identifying and offering counseling to intending couples of high-risk marriages. In the USA, with an equally significant burden of sickle cell disease, genetic counseling and testing have been well established as early as 1970 and this has shown remarkable promise in reducing the chances of at-risk couples giving birth to affected children⁵.

Keeping these facts in mind, it is observed that genetic counseling can help in reducing the probability of developing or transmitting the disease, and hence the topic has been chosen for the study.

Introduction:

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

Signs and symptoms of sickle cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person.

Genetic counselors play an important role in providing expert genetic services. They are trained to present often complex and difficult-to-comprehend information to families and patients about genetic risks, testing, and diagnosis; discuss available options; and provide counseling services and referrals to educational and support services⁶.

Key terms:

Genetic counseling, sickle cell anaemia

References:

1. Sickle cell diseases- Data and statistics, available from: https://www.cdc.gov/ncbddd/sicklecell/data.html.

2. Mvundura M, Amendah D, Kavanagh PL, Sprinz PG, Grosse SD. Health care utilization and expenditures for privately and publicly insured children with sickle cell disease in the United States.Pediatr Blood Cancer. 2009 Oct;53(4):642-6. doi: 10.1002/pbc.22069.

3. Ashley-Koch A1, Yang Q, Olney RS.Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.Am J Epidemiol. 2000 May 1;151(9):839-45

4. Guimarães CT1, Coelho GO.The importance of genetic counseling at sickle cell anemia. Cien Saude Colet. 2010 Jun;15 Suppl 1:1733-40.

5. John C Aneke, Chide E Okocha. Sickle cell disease genetic counseling and testing: A review. Archives​ of medicine and health sciences. 2016. Vol: 4, Issue no:1, Pp: 50-57.DOI: 10.4103/2321-4848.183342

6. Understanding Genetics- A District of Columbia Guide for Patients and Health Professionals. Genetic Alliance; District of Columbia Department of Health. Washington(DC): Genetic Alliance; 2010 Feb 17.