COMMUNITY STUDIES 124
COMMUNITY STUDllvS
Distribution of frequency of thalassemia in the world :
The main advances in our knowledge on the distribution of the relevant genes since the publication of 'VV.H.O. Review'
(1966) are summarised in the adjoining world map (Livingstone, 1067,
1973; Weatherall and Clegg, 1981).
The thalassemia arc more widespread and occur with a high frequency in a line extending tiirougii thn Mediterranean littoral and islands, the Middle East, the Indian subcontinent and throughout
South East Asia, in a region including Southern China, Laos, Thailand, the Malay Peninsula.
There are several million people who are heterozygous for the major hereditary anemias and at least 2,00,000 lethally affected homozygotes are borne annually, approximately equally divided between sickle cell anemia and the thalassemia syndromes. The actual incidence of affected babies varies very much from one area to another. This compares with about 1500 per year in the USA, 700 per year in the Caribbean and 140 per year in the U.K.
Agarwal M.B. (1984) compiled W.H.O. report on progress in community control of thalassemia. 125
Annual births of homozygoln or compound hotcrozygoto for the major hoiiioglobinopalliios
(Conservative estimate)
HbE/ Hb/S HbSS Total Area (Hydrops Thala- Thala- Thala- 8 fetalis) sseinia ssemia ssciiiia HbCS
Subsaharan Africa 100,000 100,000
North Africa 850 300 100 1,250
Middle East 1,650 530 3,100 5,280
Asia 10,000 16,950 16,100 20 43,070
Europe 2,350 100 100 2,550
N.America 6 100 2,200 2,200 Caribbean
S.America
Oceania
Min 10,000 21,800 16,100 950 103.300 152,150 Total
ProbablG 20,000 42,000 32,200 2,000 105,000 2Ui.2UU Total
Agarwal (1984) recorded only 20 births of HbS thalassemia in
Asia while recent literature suggests more figures. 12(i
THE WORLD DISTRIBUTION OF THE MAJOR HEMOGLOBINOPATHIES
B - thalassemia, stippled; Hb C, black; Hb E, vertical stripes; Hb S, oblique stripes. Hb S is shown by light stripes in the Americas where it was not indigenous. In North America it is mainly a disease of the Negro minority; it is common in the Carrlbean and its frequency in South America is not known. 127
Distribution and frequency of hemoglobinopathies in India :
Altogether, the incidence of hemoglobinopathy traits capable of producing major disease ranges from 3-6% in the North to l-Z'j, in the South, with pockets of much higher frequencies. A general picture emerges of about 3% Beta thalassemia trait, north of a line from Bombay to Calcutta and about 1% or less below this line.
The figure is much higher in some groups in Gujarat : 10-15% (Bhatia,
1976), Singh : 10% (Sukumaran, 1974) and the Northern two-thirds of Pakistan : 6.5% (Hunt, 1983). Population movement in 1947 brought substantial numbers of thalassemia carriers from Sindh to the Bombay area and from Northern Pakistan to the Punjab.
Sickle cell trait occurs in pockets, often in high frequency
(10-15%) in tribal areas and among the scheduled castes. In the South and East, sicklers apparently have a relatively mild disease associated with a high HbF level as in Saudi Arabia, but in the West there is a more severe disease as in Africa.
HbS trait occurs with a low frequency (about 1%) in many other groups, and interacts with Beta thalassemia. HbE trait is found mainly in Bengal (about 3.5%) and in Assam (15%) and interacts with Beta-thalassemia trait to produce HbE/Beta thalassemia.
Table gives estimated frequencies of at-risk marriages and the homozygote birth-rate in India (Modell and Petrou, 1983). 12«
Ivsliinntod birth-rato of mnjnr fu^ninRloljinopnthios in Inciia
Incidence Incidence I'opula- [Icjmozygotes Group Incidence of at-risk of tion no Annual of traits marriages, homozygous (approx births at l)irths per G 34/1000 per X 10 thousand tliousand
AIJ India 3. 3 1-2 750 li.400
Gujaralis 12 14 3. 5
'robably Sindhis 10 10 '? 5 - 200()
Pakistanis' 6.5 1.0
'i'ribal vAr.. 0-40 Sa\' H) ?50 I'ossiljly groups uitii 4,000 IlbS trait
Depending on the area, from 1 to 14 marriages per thousand are at risk and more than eight tliousand children suffering from one of the major thalassemia syiuh'omes must be born annually; tliis approaches lO";, of the world figure. births of homozygous sickle cell disease are hardf;r to calculate, but at the very most, may reach about four thousand per year. This rough calculation assumes non-consanguinous marriage; the risks are of course increased in gi'oups wher-o consanguinous marriage is the norm. 129 DISTRIBUTION AND INCIDENCE OF BETA THALASSEMIA TRAIT IN JNDIA 130
The problem of thalassemia Is more pressing than that
of sickle cell disease because thalassemia is more common, more
severe, more accessible and more can be done about it; therefore
the rest of this paper will focus attention on the thalassemia.
Population Surveys :
Due to the technical difficulties encountered in identification
of thalassemia gene, clubbed with a battery of tests which are
essential, large scale population surveys to determine the frequency
of thalassemia gene have not been commonly undertaken in India.
Hence, the data on true incidence of thalassemia among various
communities from different parts of India are limited. Available
material is often based on tlie selected group of patients and
hence the true incidence is difficult to state.
The first Indian case of thalassemia was described by
Mukherjee et al in 1930 in a Bengalee boy. Siddoo et al in
1956 examined 80 unrelated subjects and recorded 5 instances
of thalassemia trait. Chalterjoe et al in 1957 showed a high incidence of thalassemia gene (3.7 per cent) and hemoglobin E
(3,9 per cent) in Bengalees. This was the first large scale
population survey undertaken in India.
Labie et al in 1961 studied 169 individuals belonging to
different castes from Madras by electrophoresis. i^ivc out of
28 individuals from higher castes had raised HbA^ while 16 out of 114 from lower castes had raised llbA . One out of 3 Nairs 131 nnfi 2 nut nf 12 riiixnd group nf unknown cnsto hnri incronsod
HbA„. None of them had raised HbF. Thus the incidence of
Beta thalassemia trait in tlio various castos of Madras, was detected to be as follows : Higher castes - 17.9 per cent, lower castes -
14.0 per cent and the unknown prou[)s - 16.7 per cent.
In 1962 Vella screened 31 Indians in Khartoum and observed a very high frequency of thalassemia trait i.e. 32%.
In 1962, Mathur et al examined 512 anemic children below the age group of 12 years from U.P. using standard electrophoretic and alkali denaturation techniques and detected 7 families with thalassemia. However, none of these were local residents of
U.P. and hence the authors concluded that thalassemia has a very low frequency or may be completely absent in the native population of U.P.
In 1963, De Traverse et al screened 101 individuals by electrophoresis. They belonged to a mixed group from Madras and no instance of thalassemia was detected.
In 1963, Trincao et al found increased levels of foetal hemoglobin and osmotic resistance in 20 out of 833 Indians in
Goa and thus evaluated the incidence of thalassemia in Goa to be 2.41,. In 1964, Ramot et al employed electrophoretic and allied techniques to screen 66 black Jews from Cochin sta>'ing at Israel and found 9 individuals with raised HbA^ and 2 had raised foetal Hb. Thus, the incidence of thalassemia gene was 132 shown to be high in the Kerala Jews (16.6't). They also examined
172 Bhai Israel from Bombay staying in Israel and detected raised
HbA„ in 24 and raised foetal lib in 9. Thus, an incidence of
19.2% was found. In 19G9, Undevia screened 1000 Parsis by electro- phoretic and allied techniques, but none showed abnormal results to suggest thalassemia. Chouhan (1983) screened 77 voluntary and the replacement Blood Bank donors, and found two cases of
Beta thalassemia trait (raised HbA„) indicating an incidence of
2.6% in the mixed general population of FBombay.
In a study of Sarswat and Lohana communities by Sharma et al in 1971, Beta thalassemia trait (raised HbA„) was found to have an incidence of 4.2% among 240 Chitrapur Saraswat, 1.0% in 98 Gaud Saraswat and 13.6% in 103 Lohanas. In 1972, Velayudhan and Krishnadas in a random survey of mixed group of over 1000 persons at lh(; M(Hll(.;al College Hospital, 'rrlvandtuiu, (Miiploylng electrophoresis and HbF estimation, found the incidence to be
0.6%. In 1972, Mehta et al found the incidence of Beta thalassemia trait in Bhanusali community to be 14.9% by quantitating HbAo2 fraction of 599 individuals. In 1974, Sukumaran studied 82 Sindhis from Ulhasnagar near Bombay and found the incidence of Beta thalassemia trait tobe 12.4%.
In 1975, from Institute of Iinmunoheiiialology, I3oinbay. Joslii et al observed the incidence of Beta thalassemia trait to be 2.3,
3.0 and 3.6% in tribal groups of Varli, Dhodia and Kohana community respectively. All of these were from Dadra and Nagar 133
Haweli. In 1976, Bhatia et al empkiying detailed screening procedure, studied the incidence of Beta thalassemia trait aiiiong several groups and found it to be as follows : Cutchi Lohana -
10.7%, Halal Lohana - 17.2%, Sindhi Lohana - 6.8% and Punjabi
Khatri - 5.2%.
Thus the varied distribution and frequency of liemoglobino- palhies in diverse groups of hidia is obvious. It also ro\'oals some facts about the pattern of hemoglobinopathies in Western
Maharasidra. Our study included some corn muni ties which have been unexplored by other workers.
COMMUNITY STUDIIiS FOR CARRIER DETECTION :
Importance of carrier detection :
Sickle cell anenua and thalassemia are two main hereditary anemias which are most common. Detection of carriers foi' both is one of the major steps in community control of hereditary anenuas.
Although both are equally prevalent, in the community, work done on sickle cell anenua is comparatively more than on thalassemia. The main reason for this is that the methods for the carrier detection of sickle cell are simpler than those for thalassemia.
The problem of thalassemia is more pressing than that 134
of sickle cell disease because thalassemia is more common, more
severe, more accessible and more can be done about it.
In order to know the incidence of such dreadful diseases in different communities, from Western Maharashtra and to know which community or caste group is under high risk, screening programme for thalassemia carrier detection was undertaken for the present day.
This would finally aim at counselling them properly so as to avoid marriages between two individuals with thalassemia trait of if the couple chooses to marry or is already married then keep them aware of risk of a thalassemic child, and provide information about antenatal diagnostic facilities at various centres in India and abroad.
l''or the [)urposes of prosonl work, 3GUU individuals from various communities taken at random were studied.
For the purpose of our study different populations of Western
Maharashtra are divided into three groups based on their social and cultural systems.
These communities included :
1) Tribal Group Maha(i(.'o Koli, lUiill, Pavara antl Kalkari.
Hindu Castes Brahmin, Maratha, Navbuddha, Lohana and Sindhi.
3) Others Muslim, Parsi and Bhori, 135
All these individuals were tested for various bio-chemical
parameters already outlined in chapter "Evaluation of simple
test for carrier detection". The aim of the present study is
to detect individuals with thalassemia trait.
All those tests whicli are used to detect thalassemia trait helped in carrier detection and were found useful. Community
incidence of ttialassemia was then calculated.
TRIDALS :
Tribals are the primitive, isolated population groups known as aboriginals (Adivasi). They are the poorest population groups in our nation, and oldest settled down groups in Maharashtra.
They still confine themselves to forest hilly area of middle and Norlti of Sahyadi-i rangos and Satpura. Thoy constitulo about 7% of the total population of India. They follow their own social systems and have remained aloof for long time from other rural and urban population groups. According to the 1981
Census there are about 57 lakhs of tribals (9%). These people practice agriculture in the jungle tract and supplement it by gathering jungle products and selling them. They are also employed as forest labourers. The major tribal groups of Maharashtra comprise of Mahadeo Koli, Kalkari, Bhill, Pavara Korku, Madia
Gond, Kokna and VVarli.
They are predominant in the districts Dhule, Thane, Nasik,
Pune, Raigad, Jalgaon, Ahmcdnagar, Anu^avati, Yeotmal, Nandod, 136
Pawara :
They are mostly concentrated in the Northern part of Dhulia district, adjoining Maharashtra and Gujrat. They are economically better than Bhills. Mostly they are agriculturists. Their social system is same as IJliills.
Katkaris :
These reside mainly in Raigad, Pune and Thane districts.
They are socially and economically most backward group amongst tribals. They follow shifting cultivation and are mainly employed as agricultural labourers. They are also employed in wooden and private coal factories located in forest areas.
HINDU CASTES:
This comprises more than 50% of the population of Maharashtra.
This is the oldest religion in the world. This is divided into mainly four Varnas, viz. Brahmins, Kshatriya, Vaishya and Shudra.
Brahmins were given higher rank. During the course of time, due to industrialisation and influence of higher education, there was slight relaxation in these groups and intergroup marriages were given social status. There are several subgroups amongst the Brahmins, Kshatriya, Vaisiiya and Shudras.
Brahmins :
These are the priests of Hindu. They are again subdivided into numerous endogamous sub-castes based on sub-regions or 137
Chandrapur, Gadchiroli, Bhandara and Nagpur. Many of the tribal pockets are adjacent to the tribal pockets in the adjoining states namely Gujrat, Madhya Pradesh and Andhra Pradesh.
For any medical problem, the tribals resort to their culture bound systoiii and rarely appr()ac:h any (luallliod medical prac:lit ujnoi- or avail the services of a health centre or a cottage hospital, r'ollovving is tlie brief description of various tribal groups and non tribals found in our area.
Mahadeo Koli :
This is one of the major tribes in Maharashtra. They are mostly concentrated on the slopes of Sahyadri ranges - East and West formulating about 12% of the tribal population of
Maliaraslilra. Social status of Mahailoo Koli is very hnv. A male will not marry a girl of his own clan nor the daughter of his maternal uncle. Mostly they follow Hindu religion and tribal culture. They are spread in Pune, Nasik and Ahmednagar districts.
Bhills :
Their origin is in the hilly country between Abu and Asiragarh from which they spread westward and soutliward in to the plains of Gujrat. Today their greater concentration is along the Western hill ranges and Satpura ranges. Bhills practice cross-cousin marriages. Bhills practice agriculture supplemented by gathering and selling jungle firoducts. 138
on the branch of the Vedic school followed. They are Kokanastha,
Deshastha, karade and others. They are highly educated, civilized
and occupy high positions in Government services.
Maratha :
This makes about 50% population of Maharashtra, Their
hereditary occupation is agriculture. People of this caste claim
to bo kshalriyas and the Great Shivaji belonged to this caste.
Consanguinous marriages are permitted to a little extent. They
are made up of numerous endogamous sub-castes.
Nav-Buddha :
Majority of them are Maharas. This is the most numerous of the untouchable castes of maharashtra. There is almost no villngn in this region where there are no Maharas. Traditionally
they are hereditary village servants. They are becoming rapidly urbanised by working in the textile mills and factories. They practice consanguinous marriage.
Lohana :
These are the Kshatriya community in India. They are
Vaishnavas belonging to the Raghu Vansha. They had migrated from the borders of Afganislan. They arc found in Sindh, Gujrat. and Punjab. They are divided into several endogamous groups mainly on regional basis. Many of them are settled in I3ombay and Pune. Most of them are merchants or bankers. Consanguinous marriages are known. 139
Sindhi :
This is thn iTiiRratnd Rrniip from Pni Sindhis are mostly industrialists or business professionals and as KiiialJ illnornnl trad(n\s. OTHERS : Muslim : They are divided into four classes. Shaikh, Saiyyad, Mughal and Pathan. Polygamy is permitted among Mohammedans to the number of four wives. A husband can divorce his wife at pleasure by merely repeating the prescribed sentences. Cousin marriages, both matrilateral and patrilateral are permitted. Almost all the Muslims in Maharashtra are converted from Hindus. Parsis : Parsis migrated to India from their motherland Persia. They are descendants of the Zorastrians migrated from Iran and settled on the Western coast of India in around 716 A.D. They are commonly known as Iranians and are mostly found in Bombay, Pune and Dahanu. Census of 1971 showed 64,667 Parsis. They have maintained strict endogamy. Consanguinous matrilateral and fiatrllatoral marriages are proforr-nd. Both types of cousin marriages are preferred. The average level of education is high. They have atioiUeti 140 Gujrati as their mothertongue. The occupation of the Parsis is agriculture, horticulture, weaving and business. The Parsis are a dynamic and a progressive people and are wellknovvn for their friendly, co-operative disposition and charitable lienevolonl nature. Bhori : This is a small endogamous group of population followers of Moliammadans. They are mainly traders. Cousin marriages both matrilateral and patrilateral are permitted. 141 MAP OF MAHARASHTRA SHOWING GEOGRAPHICAL LOCATION OF THE POPULATION SELECrED FOR TFH-] STUDY B * Brahmin NB : Nav-Budc iha M : Maratha M.Koli: Mahacleo Koli L : Lohaiia I' : Par si S * Sindlii BH : Bhori 142 Table showing number of males and females screened for thalassemia trait from different communities Sr. Community Males Females Total No, (Males + No. % No. I P""eiiiales) TRIBAL : 1. Mahadoo Koli 266 59.50 181 40.50 447 2. Bhill 185 67.76 88 32.24 273 3. Pawara 122 56.48 94 43.5.1 216 4. Katkari 146 55.31 118 44.69 264 Total : 1200 HINDU CASTE : 1. Brahmin 177 50.57 173 49.43 350 2, Maratha 241 56.70 184 43.30 425 3. Nav Buddha 257 49.42 263 50.58 520 4. Lohana 163 62.70 97 37.30 260 5. Sindhi 71 57.25 53 42.75 124 Total : 1679 OTHERS : 1. Muslim 200 53.33 175 46.67 375 2. Parsi 121 63.02 71 36.98 192 3. Bhuri 05 55.19 69 44.01 154 Total : 721 Total : 3600 143 Table showing incidence and gene frequency of Beta thalassemia trait in tribal population Sr. Community Sex Total Beta Gene No. No. Thalassemia frequency studied trait far thala- SSLMlUa No. !ji 1. Mahadeo Koli Male 266 4 1.50 Female 181 2 1.10 Total 447 6 1.34 0.0068 2. Bhill Male 185 3 1.62 Female 88 1 1.13 Total 273 4 1.46 0.0074 3. Pawara Male 122 2 1.64 Female 94 1 1.06 Total 216 3 1.38 0.0063 4. Katkari Male 146 3 2.05 Female 118 2 1.69 Total 164 5 1.89 0.0096 Total Tribal 1200 18 1.5 0.0076 Different groups from tribal show incidence of B-thalassemia trait to be 1.34-1.89?6. However, overall incidence of Beta thalassemia trait in tribals is 1.5% with gone frequency 0.0076. 144 Table showing incidence and gene frequency of Beta thalassemia trait in different Hindu caste groups Sr. Caste Sex Total Beta Gene No. No. Thalassemia frequency studied Trait No. % 1, Brahmin Male 177 4 2.25 Female 173 3 1.73 Total 350 7 2.00 0.0101 2. Marathe Male 241 11 4.56 Female 184 6 3.26 Total 425 17 4.00 0.0203 3. Nav-Buddha Male 257 6 2.33 I'diiifilfi 7 Total 520 13 2.5 0.0126 4. Lohana Male 1G3 16 9.81 Female 97 10 10.3 Total 260 26 10.00 0.514 5. Sindhi Male 71 6 8.45 Female 53 4 7.54 Total 124 10 8.06 0.0412 Total Hindu Castes 1679 73 4.34 0.0220 Table shows highest incidence (10%) of Beta thalassemia trait in Lohana community, while Sindhi community shows incidence of 8.069u Brahmin, Nav-Buddha and Maratha shows incidence of 2%, 2.5% and 4% respectively. 145 Table showing incidence and gene frequency of Beta thalassemia trait in different communities Sr. Community Sex Total Beta Gene No. No. Thalassemia Frequency studied Trait No. % 1. Muslim Male 200 25 12.5 Female 175 20 11.43 Total 375 45 12.00 0.0620 2. Parsi Male 121 2 1.65 Female 71 1 1.40 Total 192 3 1.56 0.0073 3. Bhori Male 85 2 2.35 Female 69 2 ^2.89 Total 154 4 2.59 0.0131 From the table a highest incidence of 12% is seen in Muslim community, while Parsi and Bhori shows incidence of 1.56''u and 2.59 respectively. DISCUSSION 146 The incidence of Beta thalassemia trait in Brahmins was 2%, in Maratha it was 4^, Nav-Buddha showed an incidence of 2.51J, whiio in Lohanas ttie incidence was highest 10%. iri Slndhis the incidence was also ingh 8.06% but less than Lohanas. Sharma studied Brahmins from Bombay and found that the incidence was 2.6%. Btiatia et al in 1976 reported 10.7%, 17.2% and 6.8% incidence in the sub-groups of Lohana i.e. Cutchi, Halai and Sindhi Lohanas respectively. Sukumaran et al in 1974 studied Sindhis from Thane district and the incidence was 12.4%. Choubisa in 1985 reported 1,83% Beta thalassemia traits in Scheduled Caste of Rajasthan. Roshan Colah in 1989 quoted in her review that overall frequency of Ihalasseinia trait in India is to the extent of 2 to 3%. From three minor groups, Muslim showed highest incidence of Beta thalassemia trait that is 12%, while Parsis showed very low incidence 1.56%, and in Bhoris the incidence was 2.59%. Undevia (1969) did not detect any positive Beta thalassemia trait amongst the thousand Parsis screened by him. Jain et al in 1984, found 3.7% Beta thalassemia traits in Bhori Muslims and 0.4% in non-Bhori Muslims.