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INTRODUCTION

Thalassemia is the most common inher-ited single-gene disorder in the world, withthe highest prevalence in Southeast Asia, whereapproximately 55 millions are carriers (Wong,1984). The gene frequencies of alpha-thalas-semia reach 30-40% in Northern Thailand andLao PDR, of β-thalassemia vary between 1-9%, and HbE has a frequency of 50-60% atthe junction of Thailand, Lao PDR, and Cam-bodia (Fucharoen and Winichagoon, 1992).Theseabnormal genes in different combinations leadto 3 major thalassemic diseases (Hb Bart’shydrops fetalis, homozygous β-thalassemia,and β-thalassemia /HbE disease), in such ahigh magnitude that they pose public health

problems in Thailand. Approximately 40% ofThai people are heterozygous carriers of thesegenes.

The role of genetic counseling to in-crease public awareness of thalassemia prob-lems is supposed to prevent the birth ofthalassemia (Mouzouras et al, 1980) but itwas not successful in Thailand. We assessedthe efficiency of thalassemia services in hospitalsfrom different regions of Thailand to deter-mine the problems and obstacles in geneticcounseling, in order to find better solutionsfor effective thalassemia prevention and con-trol in Thailand.

MATERIALS AND METHODS

A survey in thalassemia services wascarried out in 12 hospitals; 9 in Bangkok, thecapital of Thailand, and 3 in the north, northeast,and south of Thailand respectively. We inter-

GENETIC COUNSELING FOR THALASSEMIA IN THAILAND :PROBLEMS AND SOLUTIONS

Valairat Dhamcharee1, Orasri Romyanan1 and Tanimporn Ninlagarn2

1Medical Genetic Unit, Department of Anatomy, Faculty of Medicine; 2Institute of HealthResearch, Chulalongkorn University, Bangkok, Thailand

Abstract. Thalassemia, a hereditary anemia, has been a major public health problem in Thailandand Southeast Asia for decades, yet the prevalence of thalassemia in Thailand is not decreasingdue to lack of awareness of this disease in Thai population, which implied that genetic coun-seling was a failure. We determined the problems and obstacles in thalassemia counseling inThailand and proposed the possible solutions in order to deliver genetic counseling and servicesto the communities more efficiently. A survey in thalassemia services was carried out in 12hospitals; 9 in Bangkok, 3 in the North, Northeast, and South of Thailand respectively, by usingquestionnaire designed to assess the healthcare system, characteristics of target population,methods of genetic counseling, knowledge and attitudes of counselors, thalassemia supportgroup, and researches in thalassemia, in a cross-sectional descriptive research design. The mainproblems in genetic counseling for thalassemia in Thailand are the followings; thalassemiaproblems not visible to the administrators, unorganized teamwork and services, lack of knowl-edge and inadequate numbers of counselors, lack of thalassemia support group, and inadequateresearches in thalassemia prevention and control. The possible solutions are proposed. Thisstudy has pointed out the unseen problems and obstacles, along with the solutions in geneticcounseling, given correctly, will help create awareness of thalassemia impact on health andsocioeconomics in the Thai population. Thus, genetic counseling, with well-established guide-lines, is a critical component for the success of prevention and control of thalassemia in Thai-land.

Correspondence: Dr Valairat Dhamcharee, 49/3 SoiRuam Rudee 2, Ploen Jit, Bangkok 10330, Thai-land.E-mail: valairatdhamcharee@usa.net

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viewed the administrators and the personnelinvolved in thalassemia services in each hospitalby using pre-tested questionnaire designed toassess the administrative and healthcare sys-tem, characteristics and interests of targetpopulation, methods of genetic counseling,knowledge and attitudes of counselors, sup-ports available for thalassemia patients andfamily members, and on-going researches inthalassemia, in a cross-sectional descriptiveresearch design.

RESULTS

Of the 12 hospitals, 7 were supported forthalassemia services by hospital funds orgovernment funds, but 5 hospitals were notsupported (Table 1). Five out of 12 hospitalshad well-organized program with team lead-ers, who were all physicians. There was noofficial evaluation of the thalassemia servicesin all, except 1 hospital, which had beenevaluated annually for the past 2 years. Thestandard guidelines for thalassemia control inThailand includes blood screening (hemoglo-bin-Hb, hematocrit-Hct, and mean corpuscu-lar volume-MCV), diagnosis of disease andcarrier (hemoglobin electrophoresis and DNAanalysis if the result of hemoglobin electro-phoresis is inconclusive), and prevention(prenatal diagnosis and genetic counseling).Not all of the hospitals could do all of thesesteps (Table 2). Blood screening could bedone in all hospitals. Seven hospitals out of12 had to refer the counselees or send bloodsamples to other hospitals for accurate diag-nosis, and/or prenatal diagnosis due to lackof these services in their hospitals.

The target population were mostly preg-nant women, others were thalassemia patientsand their family members, and couples at risk(both were carriers). The average age were18-40 years (Table 3). Languages, cultures,religions, and belief did not pose any prob-lems in counseling, but poor education andpoverty caused some difficulties in counsel-ing in 4 out of 12 hospitals. The major concernsof target population were the treatment of

thalassemia (8/12), and prenatal diagnosis (4/12).

Genetic counseling in thalassemia waspreferably given individually in non-directivemethod. Some hospitals used guided counsel-ing (giving information with suggestive de-cision). Directive counseling was given in 1hospital (Table 4). Most counselors had nobackground in genetic counseling and had noqualified training before pursuing this job.The most popular media used in counseling

Table 1Support of thalassemia program and services.

Support No. ofhospitals(N=12)

Support available 7Support not available 5No finding 3Problems not visible to the administrator 2

Table 2Process in thalassemia prevention and

control.

Process No. ofhospitals(N=12)

Blood screening (Hb, Hct, MCV) 12Hemoglobin electrophoresis 10DNA analysis 6

Table 3Target populations in the surveyed hospitals.

Target populationa No. ofhospital(N=12)

Thalassemia patients and family members 9Couples at risk (carriers) 7Pregnant women 10

aThere are more than 1 category of target popula-tions in each hospital.

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up, and counselor’s assumption (Table 6).There was no official support group for thalas-semia in all surveyed hospitals. Most re-searches about thalassemia were molecularanalysis for mutations.

DISCUSSION

Twelve hospitals with thalassemia ser-vices from different regions of Thailand werechosen for this study because of their differ-ences in administrative and healthcare sys-tem, infrastructure, target population, and methodof counseling in order to assess the compre-hensive view of problems and finding thepossible solutions in prevention and controlof thalassemia in Thailand (Table 7).

The majority of hospital administratorsdid not support the thalassemia services becausethey were not aware that thalassemia patientsrequired tremendous budget for treatment, whichpartly was from the government since mostThai people are poor and do not have healthinsurance. Their lives are dominated by thehigh cost of treatment, often amounting to 20-30% of the income of many families, whichare about the same figure as other developingcountries (Sangani et al, 1990). The serviceswere run by interested pediatric hematologistsor obstetrician separately with no organizedteamwork or co-operation between departments.The lack of complete cycle (diagnosis, treat-ment, prevention) in the same hospital con-tributed to ineffective control of thalassemicbirths.

Poor education and poverty among themajority of Thai population was anothercontributing factor in unsuccessful counsel-ing. Since there is no Thai word for “thalas-semia”, it is very difficult to make themunderstand what is foreign to them. Besides,lack of knowledge and inadequate number ofgenetic counselors complicated the process ofgenetic counseling in creating awareness ofthalassemia in counselees.

Most genetic counselors were pediatrichematologists and obstetricians. Others were

Table 4Methods of genetic counseling.

Method No. ofhospitals(N=12)

Individual counseling 9Group counseling 3Non-directive counseling 7Guided counseling 4Directive counseling 1

Table 5Media in genetic counseling.

Media No. ofhospitalsa

(N=12)

Pamphlet 12Booklet 4Simulating dolls 3Diagram drawing 3Poster 2Video 2Dice 1

aMore than 1 kind of media were used in each hos-pital

Table 6Awareness of thalassemia problem in

target populations.

Percentage of awareness createda No. ofhospitals(N=12)

50 110-20 60 2Not sure 3

aPercentage of awareness of thalassemia problem intarget populations was assessed by participation inthe screening program, regular follow-up, andcounselor’s assumption.

for thalassemia was pamphlet. More than 1media were used in each hospital (Table 5).The awareness of thalassemia problems in thetarget population was assessed by participa-tion in the screening program, regular follow-

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1. Hospital administrators were not concerned ofthalassemia problem.

2. No organized teamwork and co-operation betweenthe unit involved.

3. No complete cycle of services in each hospital(diagnosis, treatment, and prevention).

4. Poor education and poverty.

5. Incorrect method in genetic counseling and lackof knowledge in counselor.

6. Inadequate personnel for thalassemia services.

7. Inadequate knowledge of thalassemia in Thaipeople.

8. No support group for thalassemia in each hospi-tal.

9. Lack of clinical research in thalassemia preven-tion and control.

1. National plan to provide knowledge of thalas-semia to hospital administrators in order to rec-ognize the problem.

2. Establish a responsible team leader and programevaluation.

3. Establish a referral center in each region whichpovides a complete cycle of services.

4. Use easy-to-understand media and language forcommunication and financial support from gov-ernment in high risk population.

5. Train genetic counselors with well-establishedguidelines for the whole country.

6. Enable primary care providers to provide a basiccounseling.

7. Education on thalassemia into high school andcollege curriculum.

8. Establish thalassemia support group.

9. Furnish specific funds for clinical research inthalassemia prevention and control.

Table 7Problems and solutions for thalassemia prevention and control in Thailand.

Problems Solutions

nurses and social workers. Neither of themhad a genetic background in thalassemiacounseling. They used AIDS counseling as amodel for thalassemia counseling, which bothof these diseases were totally different. Theyfocused only on psychological aspect aboutsuffering and emotional support without ge-netic information about thalassemia.

Genetic counseling was given individu-ally in most of the hospitals, but using verylittle time (approximately 5 minutes) per casedue to tremendous patients compare to thenumber of the counselors. The method ofcounseling was non-directive in the majorityof hospitals. Guided and directive counselingwere used in the hospitals that had over-whelming counselees because the decision couldbe made in a shorter time and the counselors

could be able to finish all the waiting counseleesin time. This method could make the thalas-semia service faster but not more effective inthe long run. Since the counselee did not fullyparticipate in making the decision, they werestill not aware of the thalassemia problem.The consequence was keeping the thalassemicfetuses after prenatal diagnosis result or lossfollow-up.

This study proposed the possible solu-tions as the followings. The Ministry of PublicHealth should establish the national policy toprovide the knowledge about thalassemia tohospital administrators and promote a thalas-semia campaign by a media information. Publicfigures can be very helpful with this program(Zorcolo et al, 1986). It will be essential tomake the thalassemia problem more visible

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to governments and international health agen-cies that are involved in health care in thedeveloping countries over the next decade(Weatherall, 1998). There should be an orga-nized team work, a responsible team leaderand a regular evaluation for thalassemia program(Loader et al, 1991) each year. A thalassemiareferral center which can perform diagnosis,treatment, and prevention should be estab-lished in each region of the country in orderto provide the effective services.

The fact that many of Thai people in therural area, who have high gene frequenciesof thalassemia (Pravatmuang et al, 1995) areilliterate, there should be Thai words forthalassemia and easy-to-understand media ingenetic counseling. Their poverty was anotherfactor for a consideration. How could theybother with thalassemia problem when theyhave no food to eat and no money to buyessential things. Thailand, as a developingcountry, should aim at prevention of thalas-semia disease by supporting the expense incarrier screening and prenatal diagnosis forhigh-risk couples, which is global cost-effec-tiveness (Scriver et al, 1984).

Genetic counseling, which is the mostimportant issue in thalassemia prevention andcontrol (Cao et al, 1996), has drawn attentionto solve the involved problems and obstacles.Due to overwhelming counselees, geneticcounseling should be given in groups for thesame type of thalassemia and for pregnantwomen at antenatal clinic. This could savetime and the important issue could be ex-plained more thoroughly. Using a media, suchas videotape instruction and information cangreatly reduce professional time required forgenetic counseling and facilitate the incorpo-ration of genetic screening into primary healthcare (Fisher et al, 1981).

Genetic counseling should be non-direc-tive, but direct to the counselee’s concern andthe counselor should spend appropriate timefor the counseling session in order to be ableto create awareness in the target population.The object is to make them aware of theconsequences of thalassemia disease on health

and socioeconomics so that they would askfor screening and prevention, and change theirreproductive plans when a possible risk isfound. This, in turn, will decrease the preva-lence of thalassemia disease in the future.

The genetic counselors should be trainedby qualified genetic personnel and a standardguideline should be established for the wholecountry. Health personnel trained in medicalgenetics are insufficient to meet the demandfor genetic services. Methods must be foundto enable primary care providers to offer geneticcounseling since the knowledge after coun-seling was similar for the primary and tertiarycare provider groups for thalassemia (Rowleyet al, 1995).

Education on thalassemia should be in-troduced into high school and college curricu-lum (Coa et al, 1989) than started at theelementary level because Thai people concernabout mating and marriage at this age. Thus,this is the right time to give the informationabout carrier screening and pre-marital coun-seling for thalassemia.

Thalassemia support group should beofficially established in the regional hospitalfor psychological and emotional support, besidesthe basic knowledge and information aboutthalassemia. This will help unloading the serviceswith inadequate health personnel.

There should be more funds to supportthe clinical research about counseling, pre-vention, and control of thalassemia, in addi-tion to molecular research. Genetic counsel-ing is the most important method to conveythalassemia information to the population. Thus,the successful thalassemia program needs aneffective genetic counseling.

The success in reducing the prevalenceof thalassemia majors in Sardinia, Italy andelsewhere shows that information about car-rier screening and prenatal diagnosis programgiven by effective genetic counseling can havea major impact in communities in whichthalassemias are common (Cao et al, 1994;Modell and Kuliev, 1993). Our study dem-onstrates the problems and solutions of ge-

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netic counseling in Thailand, which are morecomplex (Modell and Ward, 1980) than NorthernAmerica (Mitchell et al, 1996) and otherEuropean countries (Anonymous, 1989). Wehope that the results and suggestions fromthis study can be applied to other developingcountries in Asia which thalassemias are publichealth concerns. This is a pilot study forfurther work in genetic counselor training,national thalassemia policy revision, andthalassemia program evaluation in order toreduce the thalassemic births in Thailand inthe near future.

ACKNOWLEDGEMENTS

We thank all the health personnel inthalassemia services in 12 surveyed hospitalfor their co-operation in this study, which isfinancially supported by a grant from the ThaiResearch Fund.

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