Table 1.

Clinical profiles of human HO-1 deficiency with null mutations of HMOX1.

Findings	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Case 7	Case 8	Case 9
Sex	male	female	male	male	female	male	female	male	male
Age of onset	2 yr	15 yr	6 m	10 yr	7 yr	13 m	17 m	3 m	4 yr
Age at diagnosis	5 yr	16 yr	2 yr	10 yr	9 yr	20 m	3 yr	20 m	10 yr
Fever	+	+	+	+	+	+	+	+	+
Arthralgia	+	-	-	-	-	-	-	-	+
Hemolytic anemia	+++	++	++	++	++	++	++	++	++
Jaundice	-	-	-	-	-	-	-	-	-
Hematuria/ proteinuria	+/+	+/+	+/+	+/+	+/+	+/+	?	?	+/+
Asplenia	+	+	+	+	+	+	-	splenomegaly	hyposplenia
Prominent forehead	+	+	+	+	+	+	?	?	+
Hypertension	+	+	+	+	+	-	-	-	-
Cerebral bleeding	+	+	+	-	-	-	-	-	-
Growth delay	+	-	+	+	+	+	+	?	+

+: present, -: absent, +++: strongly positive, ++: moderately positive, ?: unknown or not described.