1737 – Newborn bloodspot screening for Sickle Cell Disease and Beta Thalassaemia

Page last updated: 21 September 2022

Application Detail

Description of Medical Service

Newborn bloodspot screening (NBS) aims to identify babies at risk of developing certain rare conditions and metabolic disorders where early intervention can improve health outcomes. More information is available on the Department of Health webpage for the Newborn bloodspot screening program.

Sickle Cell Disease and Beta Thalassemia are inherited blood disorders caused by gene mutations. Testing for them includes the use of High-Performance Liquid Chromatography (HPLC) / Isoelectric Focusing (IEF) or other combination of biochemical detection techniques such as Capillary Electrophoresis(CE)/HPLC or IEF/HPLC as first and/or second line testing followed by molecular (genetic) confirmation testing.

Description of Medical Condition

Sickle Cell Disease is an inherited, autosomal and recessive blood disorder caused by a defect in a gene that causes red blood cells to become sickle/crescent shaped. SCD is a multisystem disease associated with episodes of acute illness and progressive organ damage. Complications of a SCD diagnosis include frequent hospitalisation for treatment, which is burdensome for health care systems. Sickle cell anaemia, the most common form of SCD, is characterised by chronic anaemia, bone and chest pain, organ damage, failure to thrive, repeated infections and painful swelling of the hands and feet. Asthma, acute chest syndrome and infections (Invasive pneumococcal disease) and parasitic disease are the most prevalent co-morbidities.

Beta thalassaemia is a genetic condition that follows a pattern of autosomal recessive inheritance. Autosomal refers to the fact that the alpha and beta globin genes are located on the numbered chromosomes (16 and 11), and therefore affects males and females equally. Recessive means that, in order to develop signs and symptoms of the condition, both copies of the globin genes must be non-working (or at least 3 out of 4 alpha globin genes). Similar to SCD, Thalassaemia is a genetic red blood cell condition that causes lifelong anaemia due to reduced levels of functioning haemoglobin. This may cause tiredness, pale skin (pallor) and other serious complications.

Reason for Application

Inclusion in NBS

Medical Service Type

Investigative technology

Previous Application Number/s

Not Applicable

Associated Documentation

Newborn Bloodspot Screening Program Nomination Form

Nomination Form (PDF 339 KB)
Nomination Form (Word 40 KB)

Consultation Survey

Please note: The original nomination was for Sickle Cell Disease only. Therefore information about β-thalassemia, Haemoglobin E- β-Thalassemia and Delta-beta thalassemia is not included in the nomination form. During the initial review stage, the Sickle Cell Disease expert Working Group recommended that β-thalassemia, Haemoglobin E- β-Thalassemia and Delta-beta thalassemia also be considered as part of the application.

Consultation Survey (PDF 658 KB)
Consultation Survey (Word 30 KB)

PASC Consultation
PASC consultation closes 4 November 2022

MSAC Consultation
MSAC consultation TBA – please subscribe to the MSAC Email Bulletin to be notified when consultation opens for this application

For further information please refer to PASC, ESC, MSAC Key Dates
For further information on the consultation process please refer to MSAC Consultation Process

PICO Confirmation

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Assessment Report

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Public Summary Document

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Meetings for this Application

PASC

8–9 December 2022

ESC

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MSAC

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