Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo

Figures & data

Figure 1. PRISMA flux for keywords and articles retrieval.

Table 1. Progress and challenges since last regional committee recommendations.

Strategy target	Progress and challenge
Functionality of national SCD control programmes in high-burden Member States	All 23 high-burden Member States established a designated unit for SCD in their respective ministries of health including DRC.
SCD Included in the current national health plans	Done in eighteen countries. Not in Burundi, Comoros, Mauritania, Senegal and Sierra Leone.
Annual State Budget allocated	All have implemented clearly defined national SCD control programmes for prevention and control of SCD. Actual funding from the annual State budget is allocated for SCD in only eight Member States, DRC not included.
	For newborn screening or mass screening for SCD, the budget was allocated only in Burkina Faso, Kenya, Liberia, Niger and Nigeria.
	For surveillance, monitoring and evaluation of SCD activities, only Burkina Faso, Liberia, and Nigeria did it.
	Capacity building for prevention and management of SCD, only Seven Member States allocated the budget, DRC not included.
	For research related to SCD, only Benin, Burkina Faso, Liberia, Mali, Togo and Zambia successed.
Newborn screening for SCD	it is being practised in 12 Member States at subnational level. In Mali, DRC, Uganda and Ghana the samples for newborn screening are collected at all levels of the health system and transported to the tertiary facilities. In other countries, the services are generally provided only in tertiary health facilities.
	In Burkina Faso and Uganda, SCD newborn screening is integrated into HIV screening programmes.
	In six other Member States, newborn screening for SCD is integrated into Reproductive, Maternal, Newborn and Child Health(RMNCH) programmes. These linkages improve early detection and management of SCD.
Prevention and treatment	Folic acid prophylaxis for SCD patients is available in many Member States that responded, except in Angola, Burundi, Central African Republic and Gambia
	Hydroxyurea was reported in 11 Member States, DRC included.
Strategic information, surveillance and research	Only 10 Member States had data on SCT prevalence in newborns and adults.

Table 2. Laboratory methods for AS, AC, SS, SC, CC screening.

Method principle	Best identification AS, AC, SS, SC, CC	Newborn HbF	Cost	POC	Quantitative	Available in DRC
Conventional techniques
Microscopy: sickling	AS, SS	No	Low < 1$	No	No	Yes
Solubility: precipitation	AS, SS	No	Low	No	No	Yes
Hemoglobin electrophoresis
CAE	AS, SS	No	Mild	No	No	Yes
CZE	AS, SS	Yes	Mild	No	Yes	No
IEF	AS, SS, SC	Yes	Mild	No	No	Yes
CIEF	AS, SS, SC	No	Mild	No	No	No
HemeChip	AS, SS, SC	Yes	Mild	Yes	Yes	No
Density-based separations
AMPS	SS	Yes	Mild	Yes	No	No
ELISA Immunology assays
Sickle SCAN^TM	AS, SS, SC	No	Mild	Yes	No	Yes
HemoTypeSC^TM	AS, AC, SS, SC, CC	Yes	Mild	Yes	No	Yes
Paper chromatography
PBC	AS, SS	No	Mild	No	No	No
HPLC and MS
HPLC CE	AS, SS, SC	Yes	High	No	Yes	No
LC CE	AS, SS, SC	Yes	High	No	No	No
HPLC-ESI-MS	AS, SS, SC	Yes	High	No	Yes	No
Molecular methods
Targeted approach	Many variants	Yes	High	No	No	No
Globin gene sequencing	Many variants	Yes	High	No	No	No

Figure 2. Manufacturer’s instructions for HemotypeSC^TM (Kasai et al. 2019).

Table 3. Phenotypic profile according to the various studies.

Country	Ref	Population	Sample	% HbSS	% HbAS	% HbAC	Method
Angola	[31]	1 year–5 years	36453	1.5	21.0	0.019	CZE, IEF
Burkina Faso	[33]	Median 9 years	9201	0.09	0	0.13	–
Congo (Brazza)	[26]	Newborns	1119	0.9	16.8	0	IEF, HE, HPLC
DRC (Kinshasha)	[23]	4–159 months	807	4.5	5.6	0	SickleSCAN
DRC (Kisangani)	[19]	Newborns	520	0.96	23.3	0	IEF
DRC (Kisangani)	[15]	Newborns	70	1.01	24.2	0	HemoTypeSC^TM
DRC (whole)	[24]	Newborns	31204	1.4	16.9	0	IEF
Gabon (Libreville)	[27]	>15 years	4250	–	21.1	0	IEF; HPLC
Gambia	[32]	10 Mo–6 years	536	0	15.9	0	DNA
Ghana (Northern)	[34]	6 Mo-9 years	2108	0.3	7.4	19.7	PCR
Kenya (Bondo)	[30]	0–36 months	2774	0.6	22	0	HE
Mali (Bamako)	[36]	Newborns	2489	0.24	5.6	0.26	IEF, HPLC
Nigeria (Garki)	[35]	Newborns	534	2.1	24	0.70	–
Rwanda	[25]	Newborns	1825	0.18	2.54	0.09	ELISA
Sudan	[29]	>5 years	400	3.5	11.3	0	HE
Tanzania (Muhimbili)	[37]	Newborns	3981	0.8	12.6	0.7	IEF
Uganda	[28]	<5 years	1000	9.8	18.2	0	HemoTypeSC^TM

Table 4. Data reported by different researchers.

Intervention	Indicators	N	Observation	References
Diagnosis	Neonate routine practice	807	0%	[5, 24]
	After pain attack		54.8%	[24]
	Before 2 years	247	71%	[39]
Symptoms	Diagnosed by dactylitis, pain attacks	166	52.7%	[5]
	Peak incidence age in months	807	7–36	[24]
	First presentation age months		42.7 ± 29.7	[24]
	First pain crisis age months		18.2 ± 15.2	[5]
SCD complications	Children mean age (8.4 ± 4.9)
	Hepatomegaly	256	53.9%	[39]
	Splenomegaly		41.7%	[7]
	Vasoocclusive crisis (VOC)		66.4%	[5]
	Adenotonsillar hypertrophy	807	34.8%	[24]
	Severe hemolysis		53.1%	[24]
	Hand foot syndrome		52.7%	[24]
Blood transfusions	All ages	450
	Cases frequency		74.0%	[39]
	Age of first transfusion months		29.2 ± 27.6	[22]
	Number of transfusion per year		4 ± 3	[5]
Infection prophylaxis	Infants Vaccinations & Penicillin
	Both vaccination & Penicillin	198	1.5%	[40]
	Hemophilus influenza vaccinated Streptococcus pneumoniae vaccinated Salmonella sp vaccinated Hepatatis B virus (HBV) vaccinated		0% 61% 0% 16%	[6] [39] [7] [39]
	Antibiotic prophylaxis cases		35%	[7]
Pain management	Infants
	Age at the first pain attack in months		18.2 ± 15.2	[5]
	Emergency care	234	50%–60%	[39]
	Painkillers NSAIDs		100%	[5]
	Hydroxyurea taken irregularly	234	45%	[39]
Cultural beliefs and education	Parents with good awareness		38%	[41]
	Students know pre-marital screening Students ignore any preventive measures		7.7% 25.4%	[42] [42]
	Physicians trained on SCD		1%	[43]
	Physicians knowing management of VOC		46%	[43]

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