Improving the identification and management of Haemoglobinopathies and Thalassaemia in pregnancy

With SA’s diver­si­fy­ing pop­u­la­tion, up to 1 in 30 peo­ple are now thought to be car­ri­ers of a form of tha­las­saemia (e.g., alpha tha­las­saemia or beta tha­las­saemia) or a haemo­glo­binopa­thy (e.g., sick­le cell dis­ease). Most car­ri­ers are per­fect­ly healthy, and many do not know they are carriers.

How­ev­er, there can be very sig­nif­i­cant risks to the off­spring of two car­ri­ers, includ­ing a life­long depen­den­cy on month­ly blood trans­fu­sions. At the worst end of the spec­trum, it is not pos­si­ble for the off­spring of two car­ri­ers to sur­vive a preg­nan­cy (e.g., alpha tha­las­saemia major).

The Clin­i­cal Genomics Statewide Net­work team held a work­shop involv­ing near­ly 30 key clin­i­cal stake­hold­ers on April 7, enti­tled ​“Improv­ing the Iden­ti­fi­ca­tion and Man­age­ment of Haemo­glo­binopathies and Tha­las­saemia in Pregnancy”.

Iden­ti­fy­ing cou­ples at risk is com­pli­cat­ed by a mul­ti­tude of fac­tors and unfor­tu­nate­ly often does not occur until a preg­nan­cy has occurred, when time is of the essence. Iden­ti­fy­ing a car­ri­er and then inves­ti­gat­ing her part­ner com­mon­ly involves mul­ti­ple health pro­fes­sion­als and lab­o­ra­to­ry process­es. Results can be com­pli­cat­ed and usu­al­ly require expert inter­pre­ta­tion. Genet­ic test­ing is required on both mem­bers of the cou­ple if they are to have pre­na­tal test­ing (e.g., amnio­cen­te­sis or chori­on­ic vil­lus sampling).

The pri­ma­ry aim of iden­ti­fy­ing cou­ples at risk of hav­ing a preg­nan­cy affect­ed by a severe tha­las­saemia or haemo­glo­binopa­thy is to offer them a diag­no­sis as ear­ly as pos­si­ble in preg­nan­cy, there­by giv­ing them repro­duc­tive choice.

The work­shop looked at all steps in the thalassaemia/​haemoglobinopathy in preg­nan­cy path­way, to iden­ti­fy con­cerns and areas for improve­ment. The key out­comes were:

• A con­sen­sus from stake­hold­ers that this is an area of high clin­i­cal risk
• There are dif­fer­ent process­es at dif­fer­ent Local Health Network’s which should be streamlined
• The need for a co-ordi­nat­ed statewide approach, ide­al­ly with a statewide ded­i­cat­ed co-ordi­na­tion team
• The need to iden­ti­fy ways to bet­ter iden­ti­fy cou­ples at risk before they conceive
• The need to form a small­er rep­re­sen­ta­tive stake­hold­er sub­group to meet reg­u­lar­ly to progress this

Post work­shop, the next step will be to form a core work­ing group of 8 – 10 key stake­hold­ers (e.g., genetics/​adult and pae­di­atric haematology/​laboratory/​midwives) to meet quar­ter­ly and action key points from the day, with the aim of improv­ing the path­way for cou­ples at risk.

To learn more about the Net­work, see Clin­i­cal Genomics.