Table 1.

Salient features of our patient cohort with Majeed syndrome.

Patients	1	2	3	4	5
Sex	M	M	F	M	M
Consanguinity	Yes	Yes	No	Yes	Yes
Genotype	Homozygous c.2206C>T; p.Arg736Cys	Homozygous c.2041delT ; p.Trp681Glyfs*14	Homozygous c.2174+4_2174+5del	Homozygous c.1961G>A;p.Gly654Asp	Homozygous c.1620+5G>C
Parental genotype
Father	NA	Carrier	Carrier	Father deceased	Carrier
		c.2041delT	c.2174+4_2174+5del		c.1620+5G>C
Mother	NA	Carrier	Carrier	Carrier	Carrier
		c.2041delT	c.2174+4_2174+5del	c.1961G>A	c.1620+5G>C
Age at onset	8 d	7 d	8 m	8 m	2 m
Age at diagnosis	3 y	11 y 6 m	13 y 10 m	12 y 10 m	14 y 4 m
Clinical features
Failure to thrive	+	+	+	+	+
Irritability	+	+	-	+	+
Motor delay	+	+	-	-	+
CRMO
Bone pain/swelling	+	+	+	+	+
Arthritis	+	+	+	+	+
Recurrent fever	+	+	-	-	+
Anemia	+	+	+	+	+
Skin^{^a}	+	-	-	+	-
	(pustular)			(EN)
Other features	Recurrent diarrhea	Hepatomegaly, massive splenomegaly	Recurrent unilateral ear discharge	-	Recurrent abdominal pain
Laboratory findings (range from onset to diagnosis)
Hemoglobin, g/L	83–112	56–61	61–107	90–126	70–108
MCV, fL (ref: 83–101)	63.9–75.7	56.6–59	45.6–62.82	60.2–78.4	55–82
MCH, pg (ref: 27–32)	20.3–25.8	19.8^{^b}	15.1–20.74	21–27.9	16–26
Peripheral smear	Microcytic hypochromic with target cells	Microcytic hypochromic anisocytic	Microcytic hypochromic anisocytic	Microcytic hypochromic anisocytic	Microcytic hypochromic anisocytic with target cells
WBC, × 10⁹/L	4.7–12.5	3.0–5.2	6.2–17	5.1–24.2	6.2–16.4
Platelet, × 10⁹/L	290–443	230–520	340–860	240–580	490–1020
CRP, mg/L	310–980	Positive^{^c}	ND	24.6–67	810–1340
ESR, mm/h	25–105	36–105	30–145	10–108	16–96
Iron studies
Serum iron, μmol/L	ND	2.33	ND	6.62	3.94
TIBC, μmol/L	ND	28.11	ND	53.89	57.46
TS, %	ND	8.28	ND	12.2	6.85
Serum ferritin, μg/L	ND	ND	56.6	93	114

Patients 1, 2, 4 and 5 are born of first-cousin marriage.
↵^aSee Figure 2.
↵^b1 value available.
↵^cQualitative. CRMO: chronic recurrent multifocal osteomyelitis; CRP: C-reactive protein; d: days; EN: erythema nodosum; ESR: erythrocyte sedimentation rate; m: months; MCH: mean corpuscular hemoglobin; MCV: mean corpuscular volume; NA: not available; ND: not done; TIBC: total iron binding capacity; TS: transferrin saturation; WBC: white blood cell; y: years.