‘Ge­netic anom­aly can spread fast’

Times of Oman - - OMAN -

Al Balushi added, “The study at the British Jour­nal of Hae­ma­tol­ogy re­vealed that the red cells in this anom­aly are baf­fling, as they have all the char­ac­ter­is­tics of the dis­ease and can cause medium to ex­treme lev­els of pain. Th­ese cells, nick­named ‘Oman Type Sickle Cells’ are also rather rare, and have been recorded in only 70 per­sons in the Sul­tanate.”

Ac­cord­ing to the pub­li­ca­tion, HBS Oman is con­sid­ered the sec­ond rarest form of sickle cell. Car­ri­ers can also de­velop ex­tremely painful symp­toms. Al Balushi ex­plained that the ge­netic anom­aly can also spread fast, as it can be in­her­ited and does not re­quire both par­ents to have the dis­or­der.

The World Health Or­gan­i­sa­tion has also raised aware­ness over the dan­gers of tha­las­saemia.

“Al­pha tha­las­saemia causes hy­drops fe­talis and peri­na­tal death, of­ten with life-threat­en­ing ob­stet­ric com­pli­ca­tions for the mother, and pre­na­tal di­ag­no­sis usu­ally leads to ter­mi­na­tion of preg­nancy,” said Bernadette Modell, a pro­fes­sor who spe­cialises in tha­las­saemia, and Matthew Darli­son, who is a mem­ber of the World Health Or­gan­i­sa­tion’s Col­lab­o­rat­ing Cen­tres (WHOCC). “Some cases have re­cently been saved by in­trauter­ine trans­fu­sion, de­spite a high risk of se­vere men­tal and phys­i­cal hand­i­cap.”

“In­her­ited haemoglobin dis­or­ders (sickle-cell dis­or­ders and tha­las­saemia) were orig­i­nally char­ac­ter­is­tics of the tropics and sub­trop­ics but are now com­mon world­wide due to mi­gra­tion,” they added. “Since they can be con­trolled cost-ef­fec­tively by pro­grammes that in­te­grate treat­ment with car­rier de­tec­tion and ge­netic coun­selling, WHO has rec­om­mended the global de­vel­op­ment of th­ese ser­vices. How­ever, ser­vice de­vel­op­ment can be un­ex­pect­edly chal­leng­ing, be­cause it re­quires the in­clu­sion of ge­netic ap­proaches in health sys­tems.

Modell and Darli­son also shared meth­ods of pre­ven­tion of tha­las­saemia in Oman. “A pol­icy of de­tect­ing car­ri­ers and in­form­ing them of their risk, and pos­si­bil­i­ties for re­duc­ing it, usu­ally leads to a fall in births and deaths of af­fected chil­dren,” they said. “Re­quire­ments are the same for tha­las­saemias and sickle-cell dis­or­ders. In most coun­tries, the ap­proach de­vel­ops in three stages.”

“First, ret­ro­spec­tively in­form­ing par­ents with af­fected chil­dren of their 25 per cent re­cur­rence risk al­lows them to limit the fam­ily size and, where av­er­age fam­ily sizes are typ­i­cally large, this ap­proach can sig­nif­i­cantly re­duce af­fected birth preva­lence,” they said.

“Sec­ond, in­tro­duc­tion of pre­na­tal di­ag­no­sis for cou­ples with af­fected chil­dren en­ables them to have a fam­ily, but has lit­tle fur­ther ef­fect on af­fected birth preva­lence. Ac­cess may also be lim­ited by eco­nomic, med­i­cal, so­cial or le­gal fac­tors. Third, in­for­ma­tion and prospec­tive car­rier screen­ing is pro­vided for the whole pop­u­la­tion.”

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